{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T12:08:41Z","timestamp":1759147721853},"reference-count":44,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Ther Med"],"DOI":"10.3892\/etm.2024.12558","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T12:12:01Z","timestamp":1714392721000},"source":"Crossref","is-referenced-by-count":0,"title":["Identification of novel variations in three cases with rare inherited neuromuscular disorder"],"prefix":"10.3892","volume":"27","author":[{"given":"Wen-Qi","family":"Chen","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Fan","family":"Yuan","sequence":"additional","affiliation":[{"name":"Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke-Na","family":"Hu","sequence":"additional","affiliation":[{"name":"Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Lan","family":"Sun","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si-Wen","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-Bing","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Ming","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong-Ying","family":"Han","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-Zhou","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"key20240520085321_b1-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1038\/s41580-021-00389-z","article-title":"Molecular and cellular basis of genetically inherited skeletal muscle disorders","volume":"22","author":"Dowling","year":"2021","journal-title":"Nat Rev Mol Cell Biol"},{"key":"key20240520085321_b2-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"key20240520085321_b3-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1640","DOI":"10.1212\/CON.0000000000000792","article-title":"Congenital muscular dystrophy and congenital myopathy","volume":"25","author":"Butterfield","year":"2019","journal-title":"Continuum (Minneap Minn)"},{"key":"key20240520085321_b4-ETM-27-6-12558","author":"Foley"},{"key":"key20240520085321_b5-ETM-27-6-12558","doi-asserted-by":"publisher","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":"Pepea","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"key20240520085321_b6-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1002\/ana.22087","article-title":"Early onset collagen VI myopathies: Genetic and clinical correlations","volume":"68","author":"Bri\u00f1as","year":"2010","journal-title":"Ann Neurol"},{"key":"key20240520085321_b7-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/nrneurol.2011.81","article-title":"The collagen VI-related myopathies: Muscle meets its matrix","volume":"7","author":"B\u00f6nnemann","year":"2011","journal-title":"Nat Rev Neurol"},{"key":"key20240520085321_b8-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1016\/j.nmd.2010.02.012","article-title":"166th ENMC international workshop on collagen type VI-related myopathies, 22-24 May 2009, Naarden, The Netherlands","volume":"20","author":"Allamand","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"30","key":"key20240520085321_b9-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1186\/2044-5040-1-30","article-title":"ColVI myopathies: Where do we stand, where do we go?","volume":"1","author":"Allamand","year":"2011","journal-title":"Skelet Muscle"},{"key":"key20240520085321_b10-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/j.nmd.2009.09.010","article-title":"Autosomal recessive inheritance of classic Bethlem myopathy","volume":"19","author":"Foley","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"key20240520085321_b11-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"4272","DOI":"10.1074\/jbc.M114.632208","article-title":"Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI \u03b12(VI) chain","volume":"290","author":"Zamurs","year":"2015","journal-title":"J Biol Chem"},{"key":"key20240520085321_b12-ETM-27-6-12558","doi-asserted-by":"publisher","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","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20240520085321_b13-ETM-27-6-12558","author":"Hedera"},{"key":"key20240520085321_b14-ETM-27-6-12558","author":"Parodi"},{"key":"key20240520085321_b15-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1093\/brain\/awp056","article-title":"Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: A population-based study","volume":"132","author":"Erichsen","year":"2009","journal-title":"Brain"},{"key":"key20240520085321_b16-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1111\/j.1468-1331.2011.03358.x","article-title":"Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia","volume":"18","author":"Fei","year":"2011","journal-title":"Eur J Neurol"},{"key":"key20240520085321_b17-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000358801","article-title":"The global epidemiology of hereditary ataxia and spastic paraplegia: A systematic review of prevalence studies","volume":"42","author":"Ruano","year":"2014","journal-title":"Neuroepidemiology"},{"key":"key20240520085321_b18-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"3331","DOI":"10.1093\/brain\/awy285","article-title":"Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex","volume":"141","author":"Parodi","year":"2018","journal-title":"Brain"},{"key":"key20240520085321_b19-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1093\/brain\/awab386","article-title":"Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia","volume":"145","author":"M\u00e9reaux","year":"2022","journal-title":"Brain"},{"key":"key20240520085321_b20-ETM-27-6-12558","author":"Darras"},{"key":"key20240520085321_b21-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and Becker muscular dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol Clin"},{"issue":"619948","key":"key20240520085321_b22-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.619948","article-title":"Case report: Exome sequencing identified a novel compound heterozygous variation in PLOD2 causing bruck syndrome type 2","volume":"12","author":"Zhang","year":"2021","journal-title":"Front Genet"},{"issue":"688241","key":"key20240520085321_b23-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.688241","article-title":"Investigation of a novel LRP6 variant causing autosomal-dominant tooth agenesis","volume":"12","author":"Huang","year":"2021","journal-title":"Front Genet"},{"issue":"e1885","key":"key20240520085321_b24-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1885","article-title":"Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS)","volume":"10","author":"Yang","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"key20240520085321_b25-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"key20240520085321_b26-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"issue":"355","key":"key20240520085321_b27-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1007\/s00894-019-4232-z","article-title":"Enhanced GROMACS: Toward a better numerical simulation framework","volume":"25","author":"Rakhshani","year":"2019","journal-title":"J Mol Model"},{"key":"key20240520085321_b28-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"4812","DOI":"10.1016\/j.bmc.2016.06.034","article-title":"Parametrization of halogen bonds in the CHARMM general force field: Improved treatment of ligand-protein interactions","volume":"24","author":"Soteras Guti\u00e9rrez","year":"2016","journal-title":"Bioorg Med Chem"},{"key":"key20240520085321_b29-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.spen.2019.01.005","article-title":"Update on the genetics of congenital myopathies","volume":"29","author":"Pelin","year":"2019","journal-title":"Semin Pediatr Neurol"},{"key":"key20240520085321_b30-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1016\/S2352-4642(18)30140-8","article-title":"Genetic therapies for inherited neuromuscular disorders","volume":"2","author":"Scoto","year":"2018","journal-title":"Lancet Child Adolesc Health"},{"key":"key20240520085321_b31-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1883","DOI":"10.1212\/WNL.0b013e3181c3fd2a","article-title":"Autosomal recessive Bethlem myopathy","volume":"73","author":"Gualandi","year":"2009","journal-title":"Neurology"},{"key":"key20240520085321_b32-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.ejpn.2015.04.002","article-title":"Paternal germline mosaicism in collagen VI related myopathies","volume":"19","author":"Armaroli","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"key":"key20240520085321_b33-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1111\/cga.12418","article-title":"Germline mosaicism in a collagen VI-related myopathy family: A cause of autosomal recessive inheritance","volume":"61","author":"Chen","year":"2021","journal-title":"Congenit Anom (Kyoto)"},{"issue":"284","key":"key20240520085321_b34-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01921-2","article-title":"Causative variant profile of collagen VI-related dystrophy in Japan","volume":"16","author":"Inoue","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"key20240520085321_b35-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.parkreldis.2022.03.019","article-title":"Genetic, structural and clinical analysis of spastic paraplegia 4","volume":"98","author":"Varghaei","year":"2022","journal-title":"Parkinsonism Relat Disord"},{"key":"key20240520085321_b36-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1001\/archneur.61.6.849","article-title":"Hereditary spastic paraplegia: Clinical genetic study of 15 families","volume":"61","author":"Orlacchio","year":"2004","journal-title":"Arch Neurol"},{"issue":"22248","key":"key20240520085321_b37-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-01635-2","article-title":"Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias","volume":"11","author":"Giordani","year":"2021","journal-title":"Sci Rep"},{"key":"key20240520085321_b38-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"1844","DOI":"10.1093\/hmg\/ddab367","article-title":"Modeling gain-of-function and loss-of-function components of SPAST-based hereditary spastic paraplegia using transgenic mice","volume":"31","author":"Piermarini","year":"2022","journal-title":"Hum Mol Genet"},{"issue":"158","key":"key20240520085321_b39-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-158","article-title":"Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)","volume":"8","author":"Karle","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"934522","key":"key20240520085321_b40-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.934522","article-title":"The role of spastin in axon biology","volume":"10","author":"Costa","year":"2022","journal-title":"Front Cell Dev Biol"},{"issue":"218","key":"key20240520085321_b41-ETM-27-6-12558","doi-asserted-by":"publisher","DOI":"10.3892\/ijmm.2021.5051","article-title":"Molecular and cellular mechanisms of spastin in neural development and disease (Review)","volume":"48","author":"Liu","year":"2021","journal-title":"Int J Mol Med"},{"key":"key20240520085321_b42-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Aartsma-Rus","year":"2006","journal-title":"Muscle Nerve"},{"key":"key20240520085321_b43-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","article-title":"An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus","volume":"2","author":"Monaco","year":"1988","journal-title":"Genomics"},{"key":"key20240520085321_b44-ETM-27-6-12558","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: An ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"}],"container-title":["Experimental and Therapeutic Medicine"],"original-title":[],"deposited":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T05:54:21Z","timestamp":1716184461000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/etm.2024.12558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,29]]},"references-count":44,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,4,29]]}},"URL":"https:\/\/doi.org\/10.3892\/etm.2024.12558","relation":{},"ISSN":["1792-0981","1792-1015"],"issn-type":[{"value":"1792-0981","type":"print"},{"value":"1792-1015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,29]]},"article-number":"270"}}