Article
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
Neurogenetics - 1 Jan 2015
Ajroud-Driss Senda, Fecto Faisal, Ajroud Kaouther, Lalani Irfan, Calvo Sarah E, Mootha Vamsi K, Deng Han-Xiang, Siddique Nailah, Tahmoush Albert J, Heiman-Patterson Terry D, Siddique Teepu
Abstract excerpt
Mitochondrial myopathies belong to a larger group of systemic diseases caused by morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be caused by mutations in either the mitochondrial or nuclear genome. Only 5% of all mitochondrial disorders are autosomal dominant. We analyzed DNA from members of the previously reported Puerto Rican kindred with an autosomal dominant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.