{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:46:15Z","timestamp":1786992375715,"version":"build-2736575974"},"reference-count":48,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T00:00:00Z","timestamp":1656028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["NTUH.105-002959"],"award-info":[{"award-number":["NTUH.105-002959"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Formosan Medical Association"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.jfma.2022.06.012","type":"journal-article","created":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T07:27:47Z","timestamp":1657351667000},"page":"2574-2583","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis"],"prefix":"10.1016","volume":"121","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4707-1861","authenticated-orcid":false,"given":"Hsueh-Wen","family":"Hsueh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Chin","family":"Weng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pi-Chuan","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1235-1943","authenticated-orcid":false,"given":"Feng-Jung","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang-Tso","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Jen","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih-Chao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib1","first-page":"ii12","article-title":"Genetic neuromuscular disease","volume":"73","author":"Reilly","year":"2002","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib2","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1590\/1678-4685-GMB-2016-0019","article-title":"Neuromuscular disorders: genes, genetic counseling and therapeutic trials","volume":"39","author":"Zatz","year":"2016","journal-title":"Genet Mol Biol"},{"issue":"6","key":"10.1016\/j.jfma.2022.06.012_bib3","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1212\/01.CON.0000440665.72169.87","article-title":"A pattern recognition approach to myopathy","volume":"19","author":"Jackson","year":"2013","journal-title":"Continuum"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib4","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s00401-012-1072-7","article-title":"Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders","volume":"125","author":"Vasli","year":"2013","journal-title":"Acta Neuropathol"},{"issue":"20","key":"10.1016\/j.jfma.2022.06.012_bib5","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1212\/WNL.0b013e3181a60ab0","article-title":"Neuromuscular disorders","volume":"72","author":"Mauermann","year":"2009","journal-title":"Neurology"},{"issue":"12","key":"10.1016\/j.jfma.2022.06.012_bib6","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1136\/jnnp-2016-313812","article-title":"Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing","volume":"87","author":"Teoh","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib7","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41525-017-0006-7","article-title":"Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases","volume":"2","author":"Schofield","year":"2017","journal-title":"NPJ Genom Med"},{"issue":"5","key":"10.1016\/j.jfma.2022.06.012_bib8","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1097\/WCO.0000000000000374","article-title":"Next-generation sequencing in neuromuscular diseases","volume":"29","author":"Efthymiou","year":"2016","journal-title":"Curr Opin Neurol"},{"issue":"6","key":"10.1016\/j.jfma.2022.06.012_bib9","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s12471-019-1251-4","article-title":"Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice","volume":"27","author":"Christiaans","year":"2019","journal-title":"Neth Heart J"},{"key":"10.1016\/j.jfma.2022.06.012_bib10","article-title":"Next generation sequencing for clinical diagnostics: five year experience of an academic laboratory","volume":"19","author":"Hartman","year":"2019","journal-title":"Mol Genet Metab Rep"},{"issue":"5","key":"10.1016\/j.jfma.2022.06.012_bib11","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1097\/WCO.0000000000000371","article-title":"Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders","volume":"29","author":"Nigro","year":"2016","journal-title":"Curr Opin Neurol"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0170517","article-title":"Comprehensive target capture\/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan","volume":"12","author":"Liang","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib13","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1186\/s13023-020-01445-1","article-title":"Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy","volume":"15","author":"Liang","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib14","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s40246-016-0089-8","article-title":"A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies","volume":"10","author":"Monies","year":"2016","journal-title":"Hum Genom"},{"issue":"4","key":"10.1016\/j.jfma.2022.06.012_bib15","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/s41379-018-0164-x","article-title":"A pattern-based approach to the interpretation of skeletal muscle biopsies","volume":"32","author":"Cai","year":"2019","journal-title":"Mod Pathol"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib16","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/j.1468-1331.2009.02930.x","volume":"17","author":"Van den Bergh","year":"2010","journal-title":"Eur J Neurol"},{"issue":"16","key":"10.1016\/j.jfma.2022.06.012_bib17","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.jfma.2022.06.012_bib18","doi-asserted-by":"crossref","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"},{"issue":"7","key":"10.1016\/j.jfma.2022.06.012_bib19","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2016","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.jfma.2022.06.012_bib20","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum Mutat"},{"issue":"12","key":"10.1016\/j.jfma.2022.06.012_bib21","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.jfma.2022.06.012_bib22","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1002\/humu.23642","article-title":"Updated recommendation for the benign stand-alone ACMG\/AMP criterion","volume":"39","author":"Ghosh","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jfma.2022.06.012_bib23","unstructured":"Resource CG. Sequence variant interpretation. https:\/\/clinicalgenome.org\/working-groups\/sequence-variant-interpretation\/."},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib24","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1212\/NXG.0000000000000015","article-title":"Expanding genotype\/phenotype of neuromuscular diseases by comprehensive target capture\/NGS","volume":"1","author":"Tian","year":"2015","journal-title":"Neurol Gen"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib25","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.nmd.2003.09.005","article-title":"Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study","volume":"14","author":"Mercuri","year":"2004","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"10.1016\/j.jfma.2022.06.012_bib26","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1212\/WNL.0000000000001269","article-title":"Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy","volume":"84","author":"Scoto","year":"2015","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib27","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ana.24303","article-title":"A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield","volume":"77","author":"Ankala","year":"2015","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib28","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/jmedgenet-2014-102819","article-title":"Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders","volume":"52","author":"Chae","year":"2015","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib29","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ana.24687","article-title":"Diagnosis and etiology of congenital muscular dystrophy: we are halfway there","volume":"80","author":"O\u2019Grady","year":"2016","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib30","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1136\/jnnp-2014-309663","article-title":"Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing","volume":"87","author":"Sevy","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.nmd.2015.10.003","article-title":"Targeted next-generation sequencing assay for detection of mutations in primary myopathies","volume":"26","author":"Evil\u00e4","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"12","key":"10.1016\/j.jfma.2022.06.012_bib32","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1136\/adc.88.12.1051","article-title":"Central core disease: clinical, pathological, and genetic features","volume":"88","author":"Quinlivan","year":"2003","journal-title":"Arch Dis Child"},{"issue":"17","key":"10.1016\/j.jfma.2022.06.012_bib33","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1212\/WNL.0b013e3182900380","article-title":"Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum","volume":"80","author":"Bharucha-Goebel","year":"2013","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib34","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1148\/radiol.2016160826","article-title":"Neurogenic and myogenic diseases: quantitative texture analysis of muscle US data for differentiation","volume":"283","author":"Sogawa","year":"2017","journal-title":"Radiology"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib35","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000506193","article-title":"Myofibrillar myopathy mimicking polyneuropathy","volume":"12","author":"Bourque","year":"2020","journal-title":"Case Rep Neurol"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib36","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1097\/CND.0000000000000164","article-title":"Whole exome sequencing identifies atypical Welander distal myopathy in patient","volume":"18","author":"Gass","year":"2017","journal-title":"J Clin Neuromuscul Dis"},{"key":"10.1016\/j.jfma.2022.06.012_bib37","series-title":"Neuromuscular disorders of infancy, childhood, and adolescence","first-page":"46","article-title":"Chapter 4 - muscle biopsy for diagnosis of neuromuscular and metabolic diseases","author":"Sarnat","year":"2015"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib38","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.jpedsurg.2017.06.006","article-title":"Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: a 10-year retrospective critical review","volume":"53","author":"Thavorntanaburt","year":"2018","journal-title":"J Pediatr Surg"},{"issue":"6","key":"10.1016\/j.jfma.2022.06.012_bib39","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1093\/brain\/awm094","article-title":"Distal myopathy caused by homozygous missense mutations in the nebulin gene","volume":"130","author":"Wallgren-Pettersson","year":"2007","journal-title":"Brain"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib40","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1007\/s11910-010-0096-4","article-title":"A diagnostic algorithm for metabolic myopathies","volume":"10","author":"Berardo","year":"2010","journal-title":"Curr Neurol Neurosci Rep"},{"issue":"2","key":"10.1016\/j.jfma.2022.06.012_bib41","first-page":"67","article-title":"Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing","volume":"13","author":"Bao","year":"2014","journal-title":"Cancer Inform"},{"issue":"4","key":"10.1016\/j.jfma.2022.06.012_bib42","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s13311-018-00674-4","article-title":"Diagnosis and treatment of mitochondrial myopathies","volume":"15","author":"Ahmed","year":"2018","journal-title":"Neurotherapeutics"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib43","doi-asserted-by":"crossref","first-page":"4","DOI":"10.3109\/07853890.2011.605389","article-title":"Diagnosis and treatment of mitochondrial myopathies","volume":"45","author":"Pfeffer","year":"2013","journal-title":"Ann Med"},{"issue":"9","key":"10.1016\/j.jfma.2022.06.012_bib44","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/nrg3966","article-title":"The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease","volume":"16","author":"Stewart","year":"2015","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jfma.2022.06.012_bib45","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/978-3-319-55330-6_30","article-title":"Mitochondrial heteroplasmy","volume":"982","author":"Stefano","year":"2017","journal-title":"Adv Exp Med Biol"},{"issue":"6","key":"10.1016\/j.jfma.2022.06.012_bib46","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2019-029240","article-title":"Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study","volume":"9","author":"Theadom","year":"2019","journal-title":"BMJ Open"},{"issue":"1","key":"10.1016\/j.jfma.2022.06.012_bib47","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.jfma.2022.06.012_bib48","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/gim.2016.107","article-title":"Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians","volume":"19","author":"Roggenbuck","year":"2017","journal-title":"Genet Med"}],"container-title":["Journal of the Formosan Medical Association"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929664622002522?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929664622002522?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T16:24:11Z","timestamp":1778775851000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929664622002522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":48,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S0929664622002522"],"URL":"https:\/\/doi.org\/10.1016\/j.jfma.2022.06.012","relation":{},"ISSN":["0929-6646"],"issn-type":[{"value":"0929-6646","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis","name":"articletitle","label":"Article Title"},{"value":"Journal of the Formosan Medical Association","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jfma.2022.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Formosan Medical Association. Published by Elsevier Taiwan LLC.","name":"copyright","label":"Copyright"}]}}