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Causative mutations have been identified in the genes <jats:italic><jats:styled-content style=\"fixed-case\">MYOT<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">LDB3<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">DES<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">CRYAB<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">FLNC<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">BAG<\/jats:styled-content>3<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">DNAJB<\/jats:styled-content>6<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">FHL<\/jats:styled-content>1<\/jats:italic>,<jats:italic> PLEC<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">TTN<\/jats:styled-content><\/jats:italic>, which encode proteins which either reside in the Z\u2010disc or associate with the Z\u2010disc. Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literature to determine the extent of mitochondrial dysfunction in each of the myofibrillar myopathy subtypes. Abnormal mitochondrial distribution is a frequent finding in each of the subtypes, but a high frequency of <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>\u2010negative or ragged red fibres, a characteristic finding in some of the conventional mitochondrial myopathies, is a rare finding. Few <jats:italic>in\u00a0vitro<\/jats:italic> studies of mitochondrial function have been performed in affected patients.<\/jats:p>","DOI":"10.1111\/ene.12814","type":"journal-article","created":{"date-parts":[[2015,7,23]],"date-time":"2015-07-23T11:15:35Z","timestamp":1437650135000},"page":"1429-1435","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Mitochondrial abnormalities in the myofibrillar myopathies"],"prefix":"10.1111","volume":"22","author":[{"given":"S.","family":"Jackson","sequence":"first","affiliation":[{"name":"Department of Neurology Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Department of Neurology Technische Universit\u00e4t Dresden Dresden 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