A novel AARS mutation in a family with dominant myeloneuropathy

OBJECTIVE: To determine the genetic cause of neurodegeneration in a family with myeloneuropathy. METHODS: We studied 5 siblings in a family with a mild, dominantly inherited neuropathy by clinical examination and electrophysiology. One patient had a sural nerve biopsy. After ruling out common geneti...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4442103/
https://ncbi.nlm.nih.gov/pubmed/25904691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001583
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