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

Mutations in the tail domain of dynein heavy chain (DYNC1H1) 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 mi...

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Detalhes bibliográficos
Main Authors: Eschbach, Judith, Sinniger, Jérome, Bouitbir, Jamal, Fergani, Anissa, Zoll, Joffrey, Geny, Bernard, Rene, Frédérique, Larmet, Yves, Baloh, Robert H., Harms, Matthew B., Shy, Michael E., Messadeq, Nadia, Weydt, Patrick, Loeffler, Jean-Philippe, Ludolph, Albert C., Dupuis, Luc
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3748180/
https://ncbi.nlm.nih.gov/pubmed/23742762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2013.05.015
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