Article
Dysferlin mutations and mitochondrial dysfunction.
Neuromuscular disorders : NMD - 1 Nov 2016
Vincent Amy E, Rosa Hannah S, Alston Charlotte L, Grady John P, Rygiel Karolina A, Rocha Mariana C, Barresi Rita, Taylor Robert W, Turnbull Doug M
Abstract excerpt
Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca2+. Since mitochondria are involved in Ca2+ buffering, we hypothesised that mitochondrial defects may be present in skeletal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.