Mitochondrial Gene Mutation Linked to CMT in Large Venezuelan Family

Mitochondrial Gene Mutation Linked to CMT in Large Venezuelan Family

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Mitochondrial Gene Mutation Linked to CMT in Large Venezuelan Family

Mutations in a mitochondrial gene that does not code for a protein have been implicated, for the first time, in the development of Charcot-Marie-Tooth (CMT) disease. These gene mutations were found in a large, indigenous Venezuelan family with more than 3,700 living members, nearly 100 of whom have experienced CMT-related symptoms. According to the investigators, this is the second gene in the mitochondria — the powerhouses of cells — to be associated with the disease so…

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