{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T21:48:32Z","timestamp":1773092912143,"version":"3.50.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T00:00:00Z","timestamp":1583366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013372","name":"Wellcome Centre for Mitochondrial Research","doi-asserted-by":"publisher","award":["203105\/Z\/16\/Z"],"award-info":[{"award-number":["203105\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/501100013372","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2020,4]]},"DOI":"10.1016\/j.nmd.2020.02.020","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T02:38:42Z","timestamp":1583721522000},"page":"346-350","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Progressive external ophthalmoplegia due to a recurrent de novo m.15990C&gt;T MT-TP (mt-tRNAPro) gene variant"],"prefix":"10.1016","volume":"30","author":[{"given":"Pushpa Raj","family":"Joshi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0761-0560","authenticated-orcid":false,"given":"Karen","family":"Baty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sila","family":"Hopton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabell","family":"Cordts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gavin","family":"Falkous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma L.","family":"Blakely","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-8873","authenticated-orcid":false,"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6116-6790","authenticated-orcid":false,"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2020.02.020_bib0001","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nrg1606","article-title":"Mitochondrial DNA mutations in human disease","volume":"6","author":"Taylor","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.nmd.2020.02.020_bib0002","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.mito.2009.04.005","article-title":"CPEO and KSS differ in the percentage and location of the mtDNA deletion","volume":"9","author":"L\u00f3pez-Gallardo","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.nmd.2020.02.020_bib0003","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/0960-8966(94)00080-S","article-title":"Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients","volume":"5","author":"Lafor\u00eat","year":"1995","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nmd.2020.02.020_bib0004","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1038\/nrg3275","article-title":"Human mitochondrial DNA: roles of inherited and somatic mutations","volume":"13","author":"Schon","year":"2012","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.nmd.2020.02.020_bib0005","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/wrna.27","article-title":"Mitochondrial tRNA mutations and disease","volume":"1","author":"Yarham","year":"2010","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"10.1016\/j.nmd.2020.02.020_bib0006","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/BF01753355","article-title":"Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle","volume":"21","author":"Old","year":"1989","journal-title":"Histochem. J."},{"key":"10.1016\/j.nmd.2020.02.020_bib0007","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/srep15037","article-title":"A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis","volume":"5","author":"Rocha","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nmd.2020.02.020_bib0008","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/S0960-8966(03)00071-3","article-title":"A novel twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia","volume":"13","author":"Deschauer","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nmd.2020.02.020_bib0009","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1093\/nar\/gnf067","article-title":"Detection and quantification of mitochondrial dna deletions in individual cells by real-time PCR","volume":"30","author":"He","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2020.02.020_bib0010","doi-asserted-by":"crossref","first-page":"E789","DOI":"10.3390\/jcm8060789","article-title":"A novel pathogenic variant in MT-CO2 causes an isolated mitochondrial complex IV deficiency and late-onset cerebellar ataxia","volume":"8","author":"Zierz","year":"2019","journal-title":"J. Clin. Med."},{"key":"10.1016\/j.nmd.2020.02.020_bib0011","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1089\/gte.2005.9.190","article-title":"Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing","volume":"9","author":"White","year":"2005","journal-title":"Genet. Test."},{"key":"10.1016\/j.nmd.2020.02.020_bib0012","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/ng0793-284","article-title":"A mitochondrial tRNA anticodon swap associated with a muscle disease","volume":"4","author":"Moraes","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nmd.2020.02.020_bib0013","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1005867","article-title":"Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP","volume":"13","author":"Sonney","year":"2017","journal-title":"PLOS Comput. Biol."},{"key":"10.1016\/j.nmd.2020.02.020_bib0014","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/humu.22358","article-title":"Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease","volume":"34","author":"Blakely","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.nmd.2020.02.020_bib0015","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/humu.21575","article-title":"A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations","volume":"32","author":"Yarham","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.nmd.2020.02.020_bib0016","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1167\/iovs.05-0665","article-title":"The novel A4435G mutation in the mitochondrial tRNA met may modulate the phenotypic expression of the LHON-Associated ND4 G11778A mutation","volume":"47","author":"Qu","year":"2006","journal-title":"Investig. Opthalmology Vis. Sci."},{"key":"10.1016\/j.nmd.2020.02.020_bib0017","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmedgenet-2016-103876","article-title":"De novo mtDNA point mutations are common and have a low recurrence risk","volume":"54","author":"Sallevelt","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.nmd.2020.02.020_bib0018","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1111\/j.1469-8749.2012.04224.x","article-title":"The clinical spectrum of the m.10191T>C mutation in complex I-deficient leigh syndrome","volume":"54","author":"Nesbitt","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.nmd.2020.02.020_bib0019","doi-asserted-by":"crossref","first-page":"E984","DOI":"10.1002\/humu.21113","article-title":"Pathogenic mitochondrial tRNA mutations\u2013which mutations are inherited and why?","volume":"30","author":"Elson","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.nmd.2020.02.020_bib0020","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.mad.2014.06.003","article-title":"Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans","volume":"139","author":"Baines","year":"2014","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.nmd.2020.02.020_bib0021","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1212\/NXG.0000000000000082","article-title":"et al. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy","volume":"2","author":"Hardy","year":"2016","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.nmd.2020.02.020_bib0022","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s100480050063","article-title":"Two novel point mutations of mitochondrial tRNA genes in histologically confirmed parkinson disease","volume":"2","author":"Grasbon-Frodl","year":"1999","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nmd.2020.02.020_bib0023","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1093\/clinchem\/48.11.1901","article-title":"Comprehensive scanning of the entire mitochondrial genome for mutations","volume":"48","author":"Wong","year":"2002","journal-title":"Clin. Chem."},{"key":"10.1016\/j.nmd.2020.02.020_bib0024","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1023\/A:1026729223050","article-title":"A novel mitochondrial transfer RNA proline mutation","volume":"23","author":"Seneca","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.nmd.2020.02.020_bib0025","doi-asserted-by":"crossref","first-page":"46","DOI":"10.3109\/19401736.2012.717933","article-title":"A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy","volume":"24","author":"Cardena","year":"2013","journal-title":"Mitochondrial DNA"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620300614?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620300614?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:09:53Z","timestamp":1760774993000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896620300614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0960896620300614"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.02.020","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.02.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}