{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T05:16:41Z","timestamp":1784956601681,"version":"3.55.0"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.nmd.2026.106364","type":"journal-article","created":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:15:37Z","timestamp":1769818537000},"page":"106364","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review"],"prefix":"10.1016","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2957-8055","authenticated-orcid":false,"given":"Rishi","family":"Sharma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benn","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Pinto e Vairo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Selcen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radhika","family":"Dhamija","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2026.106364_bib0001","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/humu.23262","article-title":"Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia","volume":"38","author":"Nasca","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2026.106364_bib0002","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/s10038-017-0405-8","article-title":"Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy","volume":"63","author":"Iwama","year":"2018","journal-title":"J Hum Genet"},{"key":"10.1016\/j.nmd.2026.106364_bib0003","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.nmd.2019.03.011","article-title":"A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement","volume":"29","author":"Ardicli","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106364_bib0004","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1007\/s00401-019-02059-z","article-title":"MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement","volume":"138","author":"Donkervoort","year":"2019","journal-title":"Acta Neuropathol (Berl)"},{"key":"10.1016\/j.nmd.2026.106364_bib0005","first-page":"12","article-title":"Novel biallelic variants in MSTO1 associated with mitochondrial myopathy","volume":"5","author":"Schultz-Rogers","year":"2019","journal-title":"Cold Spring Harb"},{"key":"10.1016\/j.nmd.2026.106364_bib0006","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.01.013","article-title":"Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy","volume":"63","author":"Li","year":"2020","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.nmd.2026.106364_bib0007","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1007\/s13760-020-01544-7","article-title":"Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants","volume":"121","author":"Jiao","year":"2021","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.nmd.2026.106364_bib0008","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1038\/s10038-020-00897-4","article-title":"A novel homozygous MSTO1 mutation in Ashkenazi jewish siblings with ataxia and myopathy","volume":"66","author":"Nasca","year":"2021","journal-title":"J Hum Genet"},{"key":"10.1016\/j.nmd.2026.106364_bib0009","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.988519","article-title":"Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia","volume":"13","author":"Chen","year":"2022","journal-title":"Front Neurol"},{"key":"10.1016\/j.nmd.2026.106364_bib0010","article-title":"Case Report: evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants","volume":"13","author":"Liu","year":"2022","journal-title":"Front"},{"key":"10.1016\/j.nmd.2026.106364_bib0011","first-page":"417","article-title":"[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene]","volume":"39","author":"Tian","year":"2022","journal-title":"Chung Hua I Hsueh I Chuan Hsueh Tsa Chih"},{"key":"10.1016\/j.nmd.2026.106364_bib0012","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202216090","article-title":"Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy","volume":"15","author":"Gerber","year":"2023","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.nmd.2026.106364_bib0013","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"},{"key":"10.1016\/j.nmd.2026.106364_bib0014","first-page":"16","article-title":"Mitochondrial fission and fusion: molecular mechanisms, biological functions, and related disorders","volume":"12","author":"Al Ojaimi","year":"2022","journal-title":"Membranes (Basel)"},{"key":"10.1016\/j.nmd.2026.106364_bib0015","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ymgme.2018.10.003","article-title":"Mitochondrial dynamics: biological roles, molecular machinery, and related diseases","volume":"125","author":"El-Hattab","year":"2018","journal-title":"Mol Genet Metab"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000325?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000325?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T23:36:59Z","timestamp":1773704219000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896626000325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":15,"alternative-id":["S0960896626000325"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106364","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106364","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"106364"}}