Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

OBJECTIVE: Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing autosomal dominant disease, though families with homozygous or compound heterozygous mutations have been described. We present 3 fam...

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Main Authors: Polke, J.M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V.S., Houlden, H., Chamley, S.C., Blake, J., DeVile, C., Sandford, R., Sweeney, M.G., Davis, M.B., Reilly, M.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3140074/
https://ncbi.nlm.nih.gov/pubmed/21715711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182242d4d
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