{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:44:08Z","timestamp":1790376248616,"version":"4.1.0"},"reference-count":209,"publisher":"FapUNIFESP (SciELO)","issue":"2a","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:p>The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin\/glycoproteins\/extracellular matrix complex.<\/jats:p>","DOI":"10.1590\/s0004-282x2009000200035","type":"journal-article","created":{"date-parts":[[2009,6,19]],"date-time":"2009-06-19T05:59:08Z","timestamp":1245391148000},"page":"343-362","source":"Crossref","is-referenced-by-count":39,"title":["Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives"],"prefix":"10.1590","volume":"67","author":[{"given":"Umbertina Conti","family":"Reed","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2004.06.009","article-title":"The congenital muscular dystrophies in 2004: a century of exciting progress","author":"Muntoni F","year":"2004","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref2","series-title":"Myology: basic and clinical","first-page":"1203","volume-title":"The congenital muscular dystrophies","author":"Voit T","year":"2004","edition":"3"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1007\/s00018-004-4510-4","article-title":"Congenital muscular dystrophy: molecular and cellular aspects","volume":"62","author":"Jimenez-Mallebrera C","year":"2005","journal-title":"Cell Mol Life Sci","ISSN":"https:\/\/id.crossref.org\/issn\/1420-682X","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"427","DOI":"10.2350\/06-07-0127.1","article-title":"The congenital muscular dystrophies: recent advances and molecular insights","volume":"9","author":"Mendell JR","year":"2006","journal-title":"Pediatr Dev Pathol"},{"key":"ref5","first-page":"129","article-title":"Muscular dystrophies due to defective glycosylation of dystroglycan","volume":"26","author":"Muntoni F","year":"2007","journal-title":"Acta Myol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.bbadis.2006.09.006","article-title":"Congenital muscular dystrophies: new aspects of an expanding group of disorders","volume":"1772","author":"Lisi MT","year":"2007","journal-title":"Biochim Biophys Acta","ISSN":"https:\/\/id.crossref.org\/issn\/0006-3002","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.spen.2006.06.003","article-title":"Congenital muscular dystrophies and the extracellular matrix","volume":"13","author":"Schessl J","year":"2006","journal-title":"Semin Pediatr Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/1071-9091","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.nmd.2007.12.001","article-title":"Gene table of monogenic neuromuscular disorders (nuclear genome only)","volume":"18","year":"2008","journal-title":"Neuromuscular Disorders","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng713","article-title":"Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome","volume":"29","author":"Moghadaszadeh B","year":"2001","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21417","article-title":"De novo LMNA mutations cause a new form of congenital muscular dystrophy","volume":"64","author":"Quijano-Roy S","year":"2008","journal-title":"Ann Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.nmd.2004.11.005","article-title":"Dystroglycan: important player in skeletal muscle and beyond","volume":"15","author":"Cohn RD","year":"2005","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0074-7696(07)65005-0","article-title":"Biology of the striated muscle dystrophin-glycoprotein complex","volume":"265","author":"Ervasti JM","year":"2008","journal-title":"Int Rev Cytol","ISSN":"https:\/\/id.crossref.org\/issn\/0074-7696","issn-type":"print"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S0304-4165(99)00182-8","article-title":"O-mannosyl glycans in mammals","volume":"1473","author":"Endo T","year":"1999","journal-title":"Biochim Biophys Acta","ISSN":"https:\/\/id.crossref.org\/issn\/0006-3002","issn-type":"print"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/hmg\/6.6.831","article-title":"Dystroglycan is essential for early embryonic development: disruption of Reichert's; membrane in Dag 1-null mice","volume":"6","author":"Williamson RA","year":"1997","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1248\/bpb.26.1641","article-title":"Glycosylation in congenital muscular dystrophies","volume":"26","author":"Endo T","year":"2003","journal-title":"Biol Pharm Bull","ISSN":"https:\/\/id.crossref.org\/issn\/0918-6158","issn-type":"print"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/S1534-5807(01)00070-3","article-title":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1","volume":"1","author":"Yoshida A","year":"2001","journal-title":"Dev Cell"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nature00837","article-title":"Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies","volume":"418","author":"Michele DE","year":"2002","journal-title":"Nature","ISSN":"https:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/nature00838","article-title":"Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy","volume":"418","author":"Moore SA","year":"2002","journal-title":"Nature","ISSN":"https:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.1074\/jbc.272.4.2156","article-title":"Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan: The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin","volume":"272","author":"Chiba A","year":"1997","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref20","series-title":"Molecular biology of the cell. 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Mol Med"},{"key":"ref49","first-page":"129","article-title":"Muscular dystrophies due to defective glycosylation of dystroglycan","volume":"26","author":"Muntoni F","year":"2007","journal-title":"Acta Myol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/brain\/awm212","article-title":"Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan","volume":"130","author":"Godfrey C","year":"2007","journal-title":"Brain","ISSN":"https:\/\/id.crossref.org\/issn\/0006-8950","issn-type":"print"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/355696a0","article-title":"Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix","volume":"355","author":"Ibraghimov-Beskrovnaya 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disease","volume":"51","author":"McGowan KA","year":"2000","journal-title":"Microsc Res Tech","ISSN":"https:\/\/id.crossref.org\/issn\/1059-910X","issn-type":"print"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1073\/pnas.85.5.1544","article-title":"Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development","volume":"85","author":"Leivo I","year":"1988","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1083\/jcb.124.3.381","article-title":"Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues","volume":"124","author":"Vuolteenaho R","year":"1994","journal-title":"J Cell Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9525","issn-type":"print"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0945-053X(94)90184-8","article-title":"A new nomenclature for the laminins","volume":"14","author":"Burgeson RE","year":"1994","journal-title":"Matrix Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0945-053X","issn-type":"print"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1083\/jcb.134.6.1483","article-title":"Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival","volume":"134","author":"Vachon PH","year":"1996","journal-title":"J Cell Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9525","issn-type":"print"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1007\/PL00000616","article-title":"Laminins during muscle development and in muscular dystrophies","volume":"56","author":"Gullberg D","year":"1999","journal-title":"Cell Mol Life Sci","ISSN":"https:\/\/id.crossref.org\/issn\/1420-682X","issn-type":"print"},{"key":"ref60","first-page":"317; 351","article-title":"Congenital muscular dystrophy with merosin deficiency","volume":"III","author":"Tome FM","year":"1994","journal-title":"CR Acad Sci"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.ceb.2007.09.002","article-title":"Structural basis for ligand recognition by integrins","volume":"19","author":"Takagi J","year":"2007","journal-title":"Curr Opin Cell Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0955-0674","issn-type":"print"},{"key":"ref62","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1186\/gb-2007-8-5-215","article-title":"The integrins","volume":"8","author":"Takada Y","year":"2007","journal-title":"Genome Biol"},{"key":"ref63","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/ng0598-94","article-title":"Mutations in the integrin alpha-7 gene cause congenital myopathy","volume":"19","author":"Hayashi YK","year":"1998","journal-title":"Nature Genet"},{"key":"ref64","doi-asserted-by":"crossref","first-page":"12601","DOI":"10.1074\/jbc.R200027200","article-title":"The basement membrane\/basal lamina of skeletal muscle","volume":"278","author":"Sanes JR","year":"2003","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref65","doi-asserted-by":"crossref","first-page":"26522","DOI":"10.1074\/jbc.272.42.26522","article-title":"Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen","volume":"272","author":"Kuo HJ","year":"1997","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.1749-6632.1985.tb51154.x","article-title":"Structure and macromolecular organization of type VI collagen","volume":"460","author":"Engel J","year":"1985","journal-title":"Ann N Y Acad Sci","ISSN":"https:\/\/id.crossref.org\/issn\/0077-8923","issn-type":"print"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1242\/dev.01037","article-title":"Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development","volume":"131","author":"P\u00f6schl E","year":"2004","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.3181\/0703-MR-72","article-title":"Structure and function of basement membranes","volume":"232","author":"LeBleu VS","year":"2007","journal-title":"Exp Biol Med (Maywood)"},{"key":"ref69","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe AK","year":"2005","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref70","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/S0022-2836(03)00585-0","article-title":"The supramolecular organization of collagen VI microfibrils","volume":"330","author":"Baldock C","year":"2003","journal-title":"J Mol Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2836","issn-type":"print"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"15326","DOI":"10.1074\/jbc.M209977200","article-title":"Structural basis of type VI collagen dimer formation","volume":"278","author":"Ball S","year":"2003","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref72","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF02864097","article-title":"Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des nueromuskularen Systems","volume":"126","author":"Ullrich O","year":"1930","journal-title":"Z Ges Neurol Psychiat"},{"key":"ref73","doi-asserted-by":"crossref","first-page":"7516","DOI":"10.1073\/pnas.121027598","article-title":"Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI","volume":"98","author":"Camacho Vanegas O","year":"2001","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref74","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1086\/340608","article-title":"Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy","volume":"70","author":"Demir E","year":"2002","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref75","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1086\/377107","article-title":"New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype","volume":"73","author":"Pan TC","year":"2003","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref76","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/brain\/99.1.91","article-title":"Benign myopathy, with autosomal dominant inheritance: A report on three pedigrees","volume":"99","author":"Bethlem J","year":"1976","journal-title":"Brain","ISSN":"https:\/\/id.crossref.org\/issn\/0006-8950","issn-type":"print"},{"key":"ref77","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/ng0996-113","article-title":"Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures","volume":"14","author":"Jobsis GJ","year":"1996","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref78","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1093\/hmg\/3.9.1657","article-title":"Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping","volume":"3","author":"Hillaire D","year":"1994","journal-title":"Hum Molec Genet"},{"key":"ref79","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng1095-216","article-title":"Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy","volume":"11","author":"Helbling-Leclerc A","year":"1995","journal-title":"Nature Genet"},{"key":"ref80","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.bbrc.2005.12.224","article-title":"Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?","volume":"342","author":"Taniguchi M","year":"2006","journal-title":"Biochem Biophys Res Commun","ISSN":"https:\/\/id.crossref.org\/issn\/0006-291X","issn-type":"print"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1177\/088307389501000610","article-title":"Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy","volume":"10","author":"Shorer Z","year":"1995","journal-title":"J. Child Neurol"},{"key":"ref82","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/mus.10544","article-title":"EMG and nerve conduction studies in children with congenital muscular dystrophy","volume":"29","author":"Quijano-Roy S","year":"2004","journal-title":"Muscle Nerve","ISSN":"https:\/\/id.crossref.org\/issn\/0148-639X","issn-type":"print"},{"key":"ref83","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/S0960-8966(96)00402-6","article-title":"Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse","volume":"7","author":"Matsumura K","year":"1997","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref84","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1590\/S0004-282X2005000500014","article-title":"Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases","volume":"63","author":"Ferreira LG","year":"2005","journal-title":"Arq Neuropsiquiatr","ISSN":"https:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref85","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0387-7604(95)00095-X","article-title":"Congenital muscular dystrophy with cerebral white matter hypodensity: Correlation of clinical features and merosin deficiency","volume":"18","author":"Reed UC","year":"1996","journal-title":"Brain Dev","ISSN":"https:\/\/id.crossref.org\/issn\/0387-7604","issn-type":"print"},{"key":"ref86","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1007\/s004010050598","article-title":"Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study","volume":"93","author":"Malandrini A","year":"1997","journal-title":"Acta Neuropathol"},{"key":"ref87","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1007\/s004010050751","article-title":"Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study","volume":"94","author":"Villanova M","year":"1997","journal-title":"Acta Neuropathol"},{"key":"ref88","first-page":"324","article-title":"MR imaging findings in children with merosin-deficient congenital muscular dystrophy","volume":"20","author":"Caro PA","year":"1999","journal-title":"AJNR Am J Neuroradiol","ISSN":"https:\/\/id.crossref.org\/issn\/0195-6108","issn-type":"print"},{"key":"ref89","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1148\/radiol.2351031963","article-title":"Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging","volume":"235","author":"Leite CC","year":"2005","journal-title":"Radiology","ISSN":"https:\/\/id.crossref.org\/issn\/0033-8419","issn-type":"print"},{"key":"ref90","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.braindev.2006.10.004","article-title":"MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter","volume":"29","author":"Sijens PE","year":"2007","journal-title":"Brain Dev","ISSN":"https:\/\/id.crossref.org\/issn\/0387-7604","issn-type":"print"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.braindev.2006.11.003","article-title":"Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency","volume":"29","author":"Brockmann K","year":"2007","journal-title":"Brain Dev","ISSN":"https:\/\/id.crossref.org\/issn\/0387-7604","issn-type":"print"},{"key":"ref92","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1001\/archneur.62.10.1582","article-title":"LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect","volume":"62","author":"Di Blasi C","year":"2005","journal-title":"Arch Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9942","issn-type":"print"},{"key":"ref93","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.10157","article-title":"Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha-2 (LAMA2) deficiency","volume":"21","author":"Tezak Z","year":"2003","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"key":"ref94","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1212\/WNL.51.1.101","article-title":"Laminin alpha2 muscular dystrophy: genotype\/phenotype studies of 22 patients","volume":"51","author":"Pegoraro E","year":"1998","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref95","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1055\/s-2007-973703","article-title":"Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy","volume":"28","author":"Sewry CA","year":"1997","journal-title":"Neuropediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0174-304X","issn-type":"print"},{"key":"ref96","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1089\/gte.2006.0517","article-title":"Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level","volume":"11","author":"Siala O","year":"2007","journal-title":"Genet Test"},{"key":"ref97","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.nmd.2007.09.003","article-title":"LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy","volume":"18","author":"Siala O","year":"2008","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref98","doi-asserted-by":"crossref","DOI":"10.1111\/j.1399-0004.2008.01068.x","article-title":"LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients","author":"Oliveira J","year":"2008","journal-title":"Clin Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"key":"ref99","doi-asserted-by":"crossref","first-page":"13729","DOI":"10.1016\/S0021-9258(17)36704-2","article-title":"Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus","volume":"269","author":"Sunada Y","year":"1994","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref100","doi-asserted-by":"crossref","first-page":"5572","DOI":"10.1073\/pnas.91.12.5572","article-title":"Defective muscle basement membrane and lack of M-laminin in the dystrophic dy\/dy mouse","volume":"91","author":"Xu H","year":"1994","journal-title":"Proc Nat Acad Sci"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/ng1194-297","article-title":"Murine muscular dystrophy caused by a mutation in the laminin alpha-2 (Lama2) gene","volume":"8","author":"Xu H","year":"1994","journal-title":"Nature Genet"},{"key":"ref102","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1006\/excr.1998.4025","article-title":"Disruption of the lama2 gene in embryonic stem cells: laminin alpha 2 is necessary for sustenance of mature muscle cells","volume":"241","author":"Kuang W","year":"1998","journal-title":"Exp Cell Res","ISSN":"https:\/\/id.crossref.org\/issn\/0014-4827","issn-type":"print"},{"key":"ref103","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1172\/JCI3705","article-title":"Merosin-deficient congenital muscular dystrophy: partial genetic correction in two mouse models","volume":"102","author":"Kuang W","year":"1998","journal-title":"J. Clin Invest"},{"key":"ref104","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/s0960-8966(02)00266-3","article-title":"Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice","volume":"13","author":"Guo LT","year":"2003","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref105","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0014-5793(97)01007-7","article-title":"Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy","volume":"415","author":"Miyagoe Y","year":"1997","journal-title":"FEBS Lett","ISSN":"https:\/\/id.crossref.org\/issn\/0014-5793","issn-type":"print"},{"key":"ref106","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/sj.gt.3300889","article-title":"Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy\/dy) mouse muscles","volume":"6","author":"Vilquin JT","year":"1999","journal-title":"Gene Ther","ISSN":"https:\/\/id.crossref.org\/issn\/0969-7128","issn-type":"print"},{"key":"ref107","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/35095054","article-title":"An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy","volume":"413","author":"Moll J","year":"2001","journal-title":"Nature","ISSN":"https:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"key":"ref108","doi-asserted-by":"crossref","first-page":"11999","DOI":"10.1073\/pnas.0502137102","article-title":"Amelioration of laminin-2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin","volume":"102","author":"Qiao C","year":"2005","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref109","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1083\/jcb.200611152","article-title":"Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages","volume":"176","author":"Meinen S","year":"2007","journal-title":"J Cell Biol","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9525","issn-type":"print"},{"key":"ref110","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1093\/hmg\/ddh190","article-title":"Laminin a1 chain reduces muscular dystrophy in laminin a2 chain deficient mice","volume":"13","author":"Gawlik K","year":"2004","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1093\/hmg\/ddl201","article-title":"Laminin a1-chain improves laminin a2-chain deficient peripheral neuropathy","volume":"15","author":"Gawlik KI","year":"2006","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref112","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1016\/j.febslet.2006.02.027","article-title":"Laminin a1-chain-mediated reduction of laminin a2-chain-deficient muscular dystrophy involves integrin a7b1 and dystroglycan","volume":"580","author":"Gawlik KI","year":"2006","journal-title":"FEBS Lett","ISSN":"https:\/\/id.crossref.org\/issn\/0014-5793","issn-type":"print"},{"key":"ref113","doi-asserted-by":"crossref","first-page":"4463","DOI":"10.1016\/j.febslet.2006.07.015","article-title":"Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy","volume":"580","author":"Hagiwara H","year":"2006","journal-title":"FEBS Lett","ISSN":"https:\/\/id.crossref.org\/issn\/0014-5793","issn-type":"print"},{"key":"ref114","doi-asserted-by":"crossref","first-page":"181","DOI":"10.2353\/ajpath.2007.060927","article-title":"Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A","volume":"171","author":"Xu R","year":"2007","journal-title":"Am J Pathol","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9440","issn-type":"print"},{"key":"ref115","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.yexcr.2007.09.020","article-title":"CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)\/dy(3k) mice","volume":"314","author":"Fukada S","year":"2008","journal-title":"Exp Cell Res","ISSN":"https:\/\/id.crossref.org\/issn\/0014-4827","issn-type":"print"},{"key":"ref116","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/jgm.1140","article-title":"Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes","volume":"10","author":"Allamand V","year":"2008","journal-title":"J Gene Med"},{"key":"ref117","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/S0960-8966(01)00275-9","article-title":"Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands","volume":"12","author":"Pepe G","year":"2002","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref118","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/S0960-8966(02)00139-6","article-title":"Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands","volume":"12","author":"Pepe G","year":"2002","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref119","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1053\/ejpn.2002.0593","article-title":"Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy","volume":"6","author":"Bertini E","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"ref120","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1055\/s-2004-815832","article-title":"Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci","volume":"35","author":"Demir E","year":"2004","journal-title":"Neuropediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0174-304X","issn-type":"print"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1136\/jmg.2004.023754","article-title":"Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy","volume":"42","author":"Lampe AK","year":"2005","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref122","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/humu.20704","article-title":"Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance","volume":"29","author":"Lampe AK","year":"2008","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"key":"ref123","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.WNL.0000163990.00057.66","article-title":"Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy","volume":"64","author":"Lucioli S","year":"2005","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref124","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1002\/ana.21213","article-title":"Molecular consequences of dominant Bethlem myopathy collagen VI mutations","volume":"62","author":"Baker NL","year":"2007","journal-title":"Ann Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"key":"ref125","doi-asserted-by":"crossref","first-page":"21817","DOI":"10.1074\/jbc.274.31.21817","article-title":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion","volume":"274","author":"Lamande SR","year":"1999","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref126","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/hmg\/7.6.981","article-title":"Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency","volume":"7","author":"Lamande SR","year":"1998","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref127","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1074\/jbc.M109932200","article-title":"Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations","volume":"277","author":"Lamande SR","year":"2002","journal-title":"J Biol Chem","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"ref128","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1006\/bbrc.1999.0680","article-title":"A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy","volume":"258","author":"Pepe G","year":"1999","journal-title":"Biochem Biophys Res Commun","ISSN":"https:\/\/id.crossref.org\/issn\/0006-291X","issn-type":"print"},{"key":"ref129","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ana.20705","article-title":"COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy","volume":"59","author":"Pepe G","year":"2006","journal-title":"Ann Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"key":"ref130","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/S0960-8966(99)00014-0","article-title":"A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem A diagnostic approach in the mutations' screening of type VI collagen myopathy","volume":"9","author":"Pepe G","year":"1999","journal-title":"Neuromuscul 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fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations","volume":"16","author":"Jimenez-Mallebrera C","year":"2006","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref134","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/ana.20586","article-title":"Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy","volume":"58","author":"Giusti B","year":"2005","journal-title":"Ann Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"key":"ref135","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.nmd.2007.03.017","article-title":"Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families","volume":"17","author":"Peat RA","year":"2007","journal-title":"Neuromuscul 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Japan","volume":"69","author":"Okada M","year":"2007","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref139","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1212\/01.wnl.0000271386.89878.22","article-title":"Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease","volume":"69","author":"Kawahara G","year":"2007","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref140","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/mus.21030","article-title":"Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes","volume":"38","author":"Kawahara G","year":"2008","journal-title":"Muscle Nerve","ISSN":"https:\/\/id.crossref.org\/issn\/0148-639X","issn-type":"print"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1212\/01.WNL.0000113023.84421.00","article-title":"Ullrich disease due to deficiency of collagen VI in the sarcolemma","volume":"62","author":"Ishikawa H","year":"2004","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref142","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1093\/hmg\/7.13.2135","article-title":"Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy","volume":"7","author":"Bonaldo P","year":"1998","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref143","doi-asserted-by":"crossref","first-page":"5225","DOI":"10.1073\/pnas.0800962105","article-title":"Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies","volume":"105","author":"Merlini L","year":"2008","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref144","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1073\/pnas.0610270104","article-title":"Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins","volume":"104","author":"Angelin A","year":"2007","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref145","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.bbabio.2008.03.026","article-title":"Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy","volume":"1777","author":"Angelin A","year":"2008","journal-title":"Biochim Biophys Acta","ISSN":"https:\/\/id.crossref.org\/issn\/0006-3002","issn-type":"print"},{"key":"ref146","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1097\/nen.0b013e3181634ef7","article-title":"Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem","volume":"67","author":"Zou Y","year":"2008","journal-title":"J Neuropathol Exp Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3069","issn-type":"print"},{"key":"ref147","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/ng1270","article-title":"Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency","volume":"35","author":"Irwin WA","year":"2003","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref148","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/07853890109002055","article-title":"Collagens and collagen-related diseases","volume":"33","author":"Myllyharju J","year":"2001","journal-title":"Ann Med","ISSN":"https:\/\/id.crossref.org\/issn\/0785-3890","issn-type":"print"},{"key":"ref149","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1001\/archneur.63.2.251","article-title":"Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations","volume":"63","author":"Mercuri E","year":"2006","journal-title":"Arch Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9942","issn-type":"print"},{"key":"ref150","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s10048-003-0165-9","article-title":"New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families","volume":"5","author":"Louhichi N","year":"2004","journal-title":"Neurogenetics","ISSN":"https:\/\/id.crossref.org\/issn\/1364-6745","issn-type":"print"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1212\/01.WNL.0000052996.14099.DC","article-title":"FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts","volume":"60","author":"Topaloglu H","year":"2003","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref152","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1086\/324412","article-title":"Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha-2 deficiency and abnormal glycosylation of alpha-dystroglycan","volume":"69","author":"Brockington M","year":"2001","journal-title":"Am J Hum 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syndrome","volume":"71","author":"Beltran-Valero de Bernabe D","year":"2002","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref156","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"van Reeuwijk J","year":"2005","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref157","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.nmd.2005.08.003","article-title":"Alpha-dystroglycan, the usual suspect?","volume":"15","author":"Brancaccio A","year":"2005","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref158","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0896-6273(03)00032-1","article-title":"Targeting 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Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3069","issn-type":"print"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.brainres.2005.12.108","article-title":"Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains","volume":"1075","author":"Saito Y","year":"2006","journal-title":"Brain Res","ISSN":"https:\/\/id.crossref.org\/issn\/0006-8993","issn-type":"print"},{"key":"ref162","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/S0306-4522(01)00092-6","article-title":"Dystroglycan distribution in adult mouse brain: a light and electron microscopy study","volume":"104","author":"Zaccaria ML","year":"2001","journal-title":"Neuroscience","ISSN":"https:\/\/id.crossref.org\/issn\/0306-4522","issn-type":"print"},{"key":"ref163","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.braindev.2004.01.004","article-title":"Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy","volume":"26","author":"Saito Y","year":"2004","journal-title":"Brain Dev","ISSN":"https:\/\/id.crossref.org\/issn\/0387-7604","issn-type":"print"},{"key":"ref164","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/s00795-004-0260-5","article-title":"Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin","volume":"37","author":"Yamamoto T","year":"2004","journal-title":"Med Electron Microsc"},{"key":"ref165","article-title":"A Comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity","author":"Jimenez-Mallebrera C","year":"2008","journal-title":"Brain 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dystrophies","volume":"164","author":"Brown SC","year":"2004","journal-title":"Am J Pathol","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9440","issn-type":"print"},{"key":"ref169","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.nmd.2005.01.013","article-title":"An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene","volume":"15","author":"Balci B","year":"2005","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref170","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.20313","article-title":"The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation","volume":"27","author":"van Reeuwijk J","year":"2006","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.nmd.2006.03.016","article-title":"POMT2 mutation in a patient with 'MEB-like' phenotype","volume":"16","author":"Mercuri E","year":"2006","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref172","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1212\/01.wnl.0000268489.60809.c4","article-title":"New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation","volume":"69","author":"Yanagisawa A","year":"2007","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref173","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0960-8966(03)00161-5","article-title":"A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan","volume":"13","author":"Dincer P","year":"2003","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref174","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1212\/01.wnl.0000216145.66476.36","article-title":"Expanding the clinical spectrum of POMT1 phenotype","volume":"66","author":"D'Amico A","year":"2006","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref175","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.nmd.2008.04.004","article-title":"POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study","volume":"18","author":"Messina S","year":"2008","journal-title":"Neuromuscul Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref176","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.tibtech.2007.04.002","article-title":"Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?","volume":"25","author":"Sciandra F","year":"2007","journal-title":"Trends Biotechnol","ISSN":"https:\/\/id.crossref.org\/issn\/0167-7799","issn-type":"print"},{"key":"ref177","first-page":"217","article-title":"The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies","volume":"24","author":"Brockington M","year":"2005","journal-title":"Acta Myol"},{"key":"ref178","first-page":"696","article-title":"LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.Nat","volume":"10","author":"Barresi R","year":"2004","journal-title":"Med"},{"key":"ref179","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1093\/hmg\/11.21.2673","article-title":"Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders","volume":"11","author":"Holzfeind PJ","year":"2002","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref180","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nm0704-676","article-title":"Glycosylation eases muscular dystrophy","volume":"10","author":"Muntoni F","year":"2004","journal-title":"Nat Med","ISSN":"https:\/\/id.crossref.org\/issn\/1078-8956","issn-type":"print"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1056\/NEJMcibr042066","article-title":"Artificial sweeteners-enhancing glycosylation to treat muscular dystrophies","volume":"35","author":"Rando TA","year":"2004","journal-title":"N Engl J Med","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"key":"ref182","doi-asserted-by":"crossref","first-page":"5616","DOI":"10.1073\/pnas.082613599","article-title":"Overexpression of cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice","volume":"99","author":"Nguyen HH","year":"2002","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref183","first-page":"159","article-title":"Genes required for functional glycosylation of dystroglycan are conserved in zebrafish","volume":"92","author":"Moore CJ","year":"2008","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"key":"ref184","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1093\/brain\/awn078","article-title":"Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)","volume":"131","author":"Thornhill P","year":"2008","journal-title":"Brain","ISSN":"https:\/\/id.crossref.org\/issn\/0006-8950","issn-type":"print"},{"key":"ref185","doi-asserted-by":"crossref","first-page":"3781","DOI":"10.1523\/JNEUROSCI.0478-08.2008","article-title":"Synaptic defects in a Drosophila model of congenital muscular dystrophy","volume":"28","author":"Wairkar YP","year":"2008","journal-title":"J Neurosci","ISSN":"https:\/\/id.crossref.org\/issn\/0270-6474","issn-type":"print"},{"key":"ref186","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1093\/hmg\/ddg115","article-title":"Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern","volume":"12","author":"Petit N","year":"2003","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref187","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.yexcr.2006.10.005","article-title":"Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo","volume":"313","author":"Deniziak M","year":"2007","journal-title":"Exp Cell Res","ISSN":"https:\/\/id.crossref.org\/issn\/0014-4827","issn-type":"print"},{"key":"ref188","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro A","year":"2002","journal-title":"Am J Hum 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function","volume":"63","author":"Rederstorff M","year":"2006","journal-title":"Cell Mol LifeSci"},{"key":"ref192","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/hmg\/ddg121","article-title":"A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia","volume":"12","author":"Monnier N","year":"2003","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref193","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1212\/01.wnl.0000188870.37076.f2","article-title":"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene","volume":"65","author":"Jungbluth H","year":"2005","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref194","doi-asserted-by":"crossref","first-page":"12485","DOI":"10.1073\/pnas.0806015105","article-title":"Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle","volume":"105","author":"Jurynec MJ","year":"2008","journal-title":"Proc Natl Acad Sci U S A","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref195","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/cbdv.200890041","article-title":"Molecular basis for the role of selenium in muscle development and function","volume":"5","author":"Lescure A","year":"2008","journal-title":"Chem Biodivers"},{"key":"ref196","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/nar\/gkm1033","article-title":"Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon","volume":"36","author":"Rederstorff M","year":"2008","journal-title":"Nucleic Acids Res","ISSN":"https:\/\/id.crossref.org\/issn\/0305-1048","issn-type":"print"},{"key":"ref197","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/10.25.2851","article-title":"Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C","volume":"10","author":"Brockington M","year":"2001","journal-title":"Hum Molec Genet"},{"key":"ref198","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1136\/jmg.2003.013870","article-title":"Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome","volume":"41","author":"Beltran-Valero de Bernabe D","year":"2004","journal-title":"J Med 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