{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:32:21Z","timestamp":1791253941763,"version":"4.1.0"},"reference-count":117,"publisher":"Hindawi Limited","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1281,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1002\/humu.22032","type":"journal-article","created":{"date-parts":[[2012,2,6]],"date-time":"2012-02-06T16:16:55Z","timestamp":1328545015000},"page":"614-626","source":"Crossref","is-referenced-by-count":31,"title":["An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia"],"prefix":"10.1155","volume":"33","author":[{"given":"Cristina","family":"Dias","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Sincan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Praveen F.","family":"Cherukuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemarie","family":"Rupps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Briemberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Selby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Mullikin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas C.","family":"Markello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2012,2,28]]},"reference":[{"key":"10.1002\/humu.22032-BIB1|cit1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1086\/510402","article-title":"Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2","volume":"80","author":"Agrawal","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB2|cit2","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1038\/ng1677","article-title":"The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone","volume":"37","author":"Anttonen","year":"2005","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB3|cit3","doi-asserted-by":"crossref","first-page":"R95","DOI":"10.1186\/gb-2011-12-9-r95","article-title":"Comprehensive comparison of three commercial human whole-exome capture platforms","volume":"12","author":"Asan","year":"2011","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22032-BIB4|cit4","doi-asserted-by":"crossref","first-page":"3462","DOI":"10.1093\/hmg\/ddp290","article-title":"Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis","volume":"18","author":"Attali","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22032-BIB5|cit5","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","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22032-BIB6|cit6","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature07517","article-title":"Accurate whole human genome sequencing using reversible terminator chemistry","volume":"456","author":"Bentley","year":"2008","journal-title":"Nature"},{"key":"10.1002\/humu.22032-BIB7|cit7","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","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1002\/humu.22032-BIB8|cit8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng0496-385","article-title":"A novel X-linked gene, G4.5. is responsible for Barth syndrome","volume":"12","author":"Bione","year":"1996","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB9|cit9","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB10|cit10","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ng1657","article-title":"Mutations in dynamin 2 cause dominant centronuclear myopathy","volume":"37","author":"Bitoun","year":"2005","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB11|cit11","article-title":"Galaxy: a web-based genome analysis tool for experimentalists","author":"Blankenberg","year":"2001","journal-title":"Curr Protoc Mol Biol"},{"key":"10.1002\/humu.22032-BIB12|cit12","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ajhg.2009.12.013","article-title":"Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies","volume":"86","author":"Bolduc","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB13|cit13","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1136\/jmg.2005.039230","article-title":"Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (CCT5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia","volume":"43","author":"Bouhouche","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22032-BIB14|cit14","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 \u00b12 deficiency and abnormal glycosylation of \u00b1dystroglycan","volume":"69","author":"Brockington","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB15|cit15","doi-asserted-by":"crossref","first-page":"R89","DOI":"10.1186\/gb-2011-12-9-r89","article-title":"Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families","volume":"12","author":"Brownstein","year":"2011","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22032-BIB16|cit16","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/ajmg.a.20408","article-title":"Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia","volume":"125A","author":"Canki-Klain","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22032-BIB17|cit17","doi-asserted-by":"crossref","DOI":"10.4159\/9780674053625","volume-title":"Biology is technology: the promise, peril, and new business of engineering life","author":"Carlson","year":"2010"},{"key":"10.1002\/humu.22032-BIB18|cit18","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.22032-BIB19|cit19","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.nmd.2009.05.005","article-title":"Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A","volume":"19","author":"Charlton","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22032-BIB20|cit20","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/ana.20761","article-title":"SEPN1: associated with congenital fiber-type disproportion and insulin resistance","volume":"59","author":"Clarke","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB21|cit21","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/ana.21308","article-title":"Mutations in TPM3 are a common cause of congenital fiber type disproportion","volume":"63","author":"Clarke","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB22|cit22","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1016\/j.ajhg.2008.10.022","article-title":"Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy","volume":"83","author":"Compton","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB23|cit23","volume-title":"The Human Gene Mutation Database","author":"Cooper","year":"2011"},{"key":"10.1002\/humu.22032-BIB24|cit24","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/nmeth.1251","article-title":"Identification of genetic variants using bar-coded multiplexed sequencing","volume":"5","author":"Craig","year":"2008","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22032-BIB25|cit25","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1056\/NEJM200003163421104","article-title":"Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene","volume":"342","author":"Dalakas","year":"2000","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22032-BIB26|cit26","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(01)00252-8","article-title":"Mutations in the [beta]-tropomyosin (TPM2) gene-a rare cause of nemaline myopathy","volume":"12","author":"Donner","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22032-BIB27|cit27","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1086\/380999","article-title":"A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene","volume":"74","author":"Dumitrescu","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB28|cit28","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ymgme.2010.06.016","article-title":"A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4","volume":"101","author":"Dwianingsih","journal-title":"Mol Genet Metabol"},{"key":"10.1002\/humu.22032-BIB29|cit29","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2008.10.010","article-title":"Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia","volume":"83","author":"Edvardson","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB30|cit30","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng718","article-title":"The UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy","volume":"29","author":"Eisenberg","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB31|cit31","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/mus.21226","article-title":"Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review)","volume":"39","author":"England","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1002\/humu.22032-BIB32|cit32","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.nmd.2010.02.017","article-title":"Reverse protein arrays as novel approach for protein quantification in muscular dystrophies","volume":"20","author":"Escher","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22032-BIB33|cit33","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","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB34|cit34","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/humu.20119","article-title":"Molecular and muscle pathology in a series of caveolinopathy patients","volume":"25","author":"Fulizio","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22032-BIB35|cit35","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1002\/ana.21006","article-title":"Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy","volume":"60","author":"Godfrey","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB36|cit36","doi-asserted-by":"crossref","first-page":"R86","DOI":"10.1186\/gb-2010-11-8-r86","article-title":"Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences","volume":"11","author":"Goecks","year":"2010","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22032-BIB37|cit37","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1365-2214.2006.00666.x","article-title":"Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled","volume":"33","author":"Graungaard","year":"2007","journal-title":"Child Care Health Dev"},{"key":"10.1002\/humu.22032-BIB38|cit38","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/ng1927","article-title":"Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia","volume":"39","author":"Gros-Louis","year":"2007","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB39|cit39","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ajhg.2009.07.015","article-title":"Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy","volume":"85","author":"Gueneau","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB40|cit40","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1097\/WCO.0b013e32830efdc2","article-title":"Limb-girdle muscular dystrophies","volume":"21","author":"Guglieri","year":"2008","journal-title":"Curr Opin Neurol"},{"key":"10.1002\/humu.22032-BIB41|cit41","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2010.10.017","article-title":"Mutation in Exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy","volume":"87","author":"Gundesli","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB42|cit42","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/342380","article-title":"Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin","volume":"71","author":"Hackman","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB43|cit43","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1016\/j.ajhg.2008.03.004","article-title":"Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including kjellin syndrome","volume":"82","author":"Hanein","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB44|cit44","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1086\/339935","article-title":"Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60","volume":"70","author":"Hansen","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB45|cit45","doi-asserted-by":"crossref","first-page":"R32","DOI":"10.1186\/gb-2009-10-3-r32","article-title":"Evaluation of next generation sequencing platforms for population targeted sequencing studies","volume":"10","author":"Harismendy","year":"2009","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22032-BIB46|cit46","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1093\/hmg\/9.14.2141","article-title":"Myotilin is mutated in limb girdle muscular dystrophy 1A","volume":"9","author":"Hauser","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22032-BIB47|cit47","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","year":"1998","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB48|cit48","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB49|cit49","doi-asserted-by":"crossref","first-page":"e18595","DOI":"10.1371\/journal.pone.0018595","article-title":"Comparison of three targeted enrichment strategies on the SOLiD sequencing platform","volume":"6","author":"Hedges","year":"2011","journal-title":"PLoS One"},{"key":"10.1002\/humu.22032-BIB50|cit50","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/ana.21310","article-title":"Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia","volume":"62","author":"Hehr","year":"2007","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB51|cit51","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","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB52|cit52","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/0092-8674(94)90136-8","article-title":"Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein","volume":"77","author":"Ho","year":"1994","journal-title":"Cell"},{"key":"10.1002\/humu.22032-BIB53|cit53","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1086\/303089","article-title":"A novel nemaline myopathy in the amish caused by a mutation in troponin T1","volume":"67","author":"Johnston","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB54|cit54","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene","volume":"7","author":"Jouet","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB55|cit55","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","year":"2005","journal-title":"Neurology"},{"key":"10.1002\/humu.22032-BIB56|cit56","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1136\/jmg.2004.020271","article-title":"Missense mutations of ACTA1 cause dominant congenital myopathy with cores","volume":"41","author":"Kaindl","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22032-BIB57|cit57","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/28256","article-title":"An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy","volume":"394","author":"Kobayashi","year":"1998","journal-title":"Nature"},{"key":"10.1002\/humu.22032-BIB58|cit58","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/322073a0","article-title":"Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy","volume":"322","author":"Kunkel","year":"1986","journal-title":"Nature"},{"key":"10.1002\/humu.22032-BIB59|cit59","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1002\/ana.20260","article-title":"Actin mutations are one cause of congenital fibre type disproportion","volume":"56","author":"Laing","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB60|cit60","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22032-BIB61|cit61","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2009.06.006","article-title":"Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies","volume":"85","author":"Lefeber","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB62|cit62","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.nmd.2007.02.015","article-title":"Cap disease caused by heterozygous deletion of the [beta]-tropomyosin gene TPM2","volume":"17","author":"Lehtokari","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22032-BIB63|cit63","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22032-BIB64|cit64","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.ajhg.2008.11.003","article-title":"A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)","volume":"83","author":"Lin","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB65|cit65","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/1682","article-title":"Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy","volume":"20","author":"Liu","year":"1998","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB66|cit66","doi-asserted-by":"crossref","first-page":"2853","DOI":"10.1093\/hmg\/ddg307","article-title":"Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan","volume":"12","author":"Longman","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22032-BIB67|cit67","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1086\/504927","article-title":"ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia","volume":"79","author":"Mannan","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB68|cit68","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1111\/j.1469-8749.2010.03726.x","article-title":"An integrated approach to the diagnosis of muscle disorders: what is the role of muscle imaging","volume":"52","author":"Mercuri","year":"2010","journal-title":"Dev Med Child Neurol"},{"key":"10.1002\/humu.22032-BIB69|cit69","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"key":"10.1002\/humu.22032-BIB70|cit70","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/01.wnl.0000327611.01687.5e","article-title":"Autosomal recessive myosclerosis myopathy is a collagen VI disorder","volume":"71","author":"Merlini","year":"2008","journal-title":"Neurology"},{"key":"10.1002\/humu.22032-BIB71|cit71","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2007.12.012","article-title":"Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance","volume":"82","author":"Mochel","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB72|cit72","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","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB73|cit73","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJM199309233291304","article-title":"Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy","volume":"329","author":"Muntoni","year":"1993","journal-title":"N Eng J Med"},{"key":"10.1002\/humu.22032-BIB74|cit74","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","article-title":"Targeted capture and massively parallel sequencing of 12 human exomes","volume":"461","author":"Ng","year":"2009","journal-title":"Nature"},{"key":"10.1002\/humu.22032-BIB75|cit75","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1038\/ng2086","article-title":"Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy","volume":"39","author":"Nicot","year":"2007","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB76|cit76","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"10.1002\/humu.22032-BIB77|cit77","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1111\/j.1468-1331.2007.01979.x","article-title":"EFNS guideline on diagnosis and management of limb girdle muscular dystrophies","volume":"14","author":"Norwood","year":"2007","journal-title":"Eur J Neurol"},{"key":"10.1002\/humu.22032-BIB78|cit78","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/13837","article-title":"Mutations in the skeletal muscle [alpha]-actin gene in patients with actin myopathy and nemaline myopathy","volume":"23","author":"Nowak","year":"1999","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB79|cit79","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awn328","article-title":"Hereditary spastic paraplegia is a novel phenotype for GJA12\/GJC2 mutations","volume":"132","author":"Orthmann-Murphy","year":"2009","journal-title":"Brain"},{"key":"10.1002\/humu.22032-BIB80|cit80","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ejmg.2010.12.003","article-title":"SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients","volume":"54","author":"Papic","year":"2011","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.22032-BIB81|cit81","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng937","article-title":"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia","volume":"31","author":"Patel","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB82|cit82","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1073\/pnas.96.5.2305","article-title":"Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy","volume":"96","author":"Pelin","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22032-BIB83|cit83","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1101\/gr.080531.108","article-title":"The consensus coding sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes","volume":"19","author":"Pruitt","year":"2009","journal-title":"Genome Res"},{"key":"10.1002\/humu.22032-BIB84|cit84","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","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB85|cit85","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.ajhg.2007.09.013","article-title":"X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1","volume":"82","author":"Quinzii","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB86|cit86","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2007.12.018","article-title":"Neuropathy target esterase gene mutations cause motor neuron disease","volume":"82","author":"Rainier","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB87|cit87","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0092-8674(95)90368-2","article-title":"Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A","volume":"81","author":"Richard","year":"1995","journal-title":"Cell"},{"key":"10.1002\/humu.22032-BIB88|cit88","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1086\/344210","article-title":"A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)","volume":"71","author":"Reid","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB89|cit89","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.ajhg.2010.10.020","article-title":"Dominant mutations in KBTBD13, a member of the BTB\/Kelch family, cause nemaline myopathy with cores","volume":"87","author":"Sambuughin","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB90|cit90","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng0394-257","article-title":"X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus","volume":"6","author":"Saugier-Veber","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB91|cit91","first-page":"904","article-title":"Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy","volume":"118","author":"Schessl","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22032-BIB92|cit92","doi-asserted-by":"crossref","first-page":"4220","DOI":"10.1172\/JCI43653","article-title":"Mutations in the selenocysteine insertion sequence, binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans","volume":"120","author":"Schoenmakers","year":"2010","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22032-BIB93|cit93","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/ana.10767","article-title":"Myofibrillar myopathy caused by novel dominant negative \u03b1B-crystallin mutations","volume":"54","author":"Selcen","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB94|cit94","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ana.20376","article-title":"Mutations in ZASP define a novel form of muscular dystrophy in humans","volume":"57","author":"Selcen","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB95|cit95","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ana.21553","article-title":"Mutation in BAG3 causes severe dominant childhood muscular dystrophy","volume":"65","author":"Selcen","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22032-BIB96|cit96","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ajhg.2009.03.006","article-title":"Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3","volume":"84","author":"Senderek","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB97|cit97","doi-asserted-by":"crossref","first-page":"21104","DOI":"10.1073\/pnas.1012989107","article-title":"Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing","volume":"107","author":"Shearer","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22032-BIB98|cit98","doi-asserted-by":"crossref","first-page":"6549","DOI":"10.1073\/pnas.1018981108","article-title":"High-quality DNA sequence capture of 524 disease candidate genes","volume":"108","author":"Shen","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22032-BIB99|cit99","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1086\/379522","article-title":"Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia","volume":"73","author":"Simpson","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB100|cit100","doi-asserted-by":"crossref","first-page":"e1000408","DOI":"10.1371\/journal.pbio.1000408","article-title":"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia","volume":"8","author":"Slabicki","year":"2010","journal-title":"PLoS Biol"},{"key":"10.1002\/humu.22032-BIB101|cit101","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith","year":"1996","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB102|cit102","volume-title":"GeneReviews","author":"Smith","year":"1993"},{"key":"10.1002\/humu.22032-BIB103|cit103","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1479-7364-4-2-69","article-title":"The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics","volume":"4","author":"Stenson","year":"2009","journal-title":"Hum Genomics"},{"key":"10.1002\/humu.22032-BIB104|cit104","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/s11910-008-0032-z","article-title":"Recent advances in the genetics of spastic paraplegias","volume":"8","author":"Stevanin","year":"2008","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1002\/humu.22032-BIB105|cit105","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmg.2009.072710","article-title":"Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C","volume":"47","author":"Tajsharghi","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22032-BIB106|cit106","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1101\/gr.106716.110","article-title":"Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing","volume":"20","author":"Teer","year":"2010","journal-title":"Genome Res"},{"key":"10.1002\/humu.22032-BIB107|cit107","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","article-title":"Sequence alterations within CYP7b1 implicate defective cholesterol homeostasis in motor-neuron degeneration","volume":"82","author":"Tsaousidou","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB108|cit108","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1086\/510782","article-title":"Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia","volume":"80","author":"Valdmanis","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB109|cit109","doi-asserted-by":"crossref","first-page":"2014","DOI":"10.1016\/j.jacc.2003.10.021","article-title":"Mutations in Cypher\/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction","volume":"42","author":"Vatta","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.22032-BIB110|cit110","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1086\/431959","article-title":"A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy","volume":"77","author":"Vorgerd","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB111|cit111","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.nmd.2008.12.005","article-title":"Four Caucasian patients with mutations in the Fukutin gene and variable clinical phenotype","volume":"19","author":"Vuillaumier-Barrot","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.22032-BIB112|cit112","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng1332","article-title":"Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein","volume":"36","author":"Watts","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB113|cit113","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/ng.810","article-title":"Exome sequencing identifies GRIN2A as frequently mutated in melanoma","volume":"43","author":"Wei","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB114|cit114","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"Windpassinger","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB115|cit115","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2007.09.004","article-title":"An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed xmpma, is caused by mutations in FHL1","volume":"82","author":"Windpassinger","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22032-BIB116|cit116","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/ng758","article-title":"Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia","volume":"29","author":"Zhao","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22032-BIB117|cit117","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng1514","article-title":"Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease","volume":"37","author":"Zuchner","year":"2005","journal-title":"Nat Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22032","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22032\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:15Z","timestamp":1672332795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,28]]},"references-count":117,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22032","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,2,28]]}}}