Dysferlin mutations and mitochondrial dysfunction
نویسندگان
چکیده
منابع مشابه
Dysferlin mutations and mitochondrial dysfunction
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 prese...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2016
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2016.08.008