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Mitochondrial abnormalities in the myofibrillar myopathies

23 Jul 2015

Abstract excerpt

Myofibrillar myopathies are a genetically diverse group of skeletal muscle disorders, with distinctive muscle histopathology. Causative mutations have been identified in the genes MYOT, LDB3, DES, CRYAB, FLNC, BAG3, DNAJB6, FHL1, PLEC and TTN, which encode proteins which either reside in the Z-disc or associate with the Z-disc. Mitochondrial abnormalities have been described in muscle from patients with a...

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PMID: 26204918
DOI: 10.1111/ene.12814

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