Article
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain : a journal of neurology - 1 Aug 2023
Jacquier Arnaud, Theuriet Julian, Fontaine Fanny, Mosbach Valentine, Lacoste Nicolas, Ribault Shams, Risson Valérie, Carras Julien, Coudert Laurent, Simonet Thomas, Latour Philippe, Stojkovic Tanya, Piard Juliette, Cosson Anne, Lesca Gaëtan, Bouhour Françoise, Allouche Stéphane, Puccio Hélène, Pegat Antoine, Schaeffer Laurent
Abstract excerpt
Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.1Met?) was identified in the COQ7 gene. This gene encodes a protein required for coenzyme Q10 biosynthesis, a component of the respiratory chain in mitochondria....
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