Article
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Annals of neurology - 1 Apr 2012
Blumen Sergiu C, Astord Stéphanie, Robin Valérie, Vignaud Ludivine, Toumi Nawel, Cieslik Aurore, Achiron Anat, Carasso Ralph L, Gurevich Michael, Braverman Itzhak, Blumen Nava, Munich Arnold, Barkats Martine, Viollet Louis
Abstract excerpt
OBJECTIVE: Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating at the distal part of the limbs, due to the progressive degeneration of motor neurons in the spinal cord. We report here a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family originating from...
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