Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA–LED) and axonal Charcot–Marie–Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant m...

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Bibliographic Details
Main Authors: Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Format: Article
Language:English
Published: Elsevier 2013-10-01
Series:Neurobiology of Disease
Subjects:
Dynein
Spinal muscular atrophy
Motor neuron disease
Charcot–Marie–Tooth disease
Mitochondria
Diabetes
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996113001575

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http://www.sciencedirect.com/science/article/pii/S0969996113001575

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