Large Kindred Evaluation of Mitofusin 2 Novel Mutation, Extremes of Neurologic Presentations, and Preserved Nerve Mitochondria

BACKGROUND: Mitofusin 2 (MFN2) is a mitochondrial membrane protein mediating mitochondrial fusion and function. Mutated MFN2 is responsible for Charcot-Marie-Tooth type 2A2. In small kindreds, specific MFN2 mutations have been reported to associate with severity of axonal neuropathy, optic atrophy,...

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Bibliografiske detaljer
Main Authors: Klein, Christopher J., Kimmel, Grace W., Pittock, Sean J., Engelstad, JaNean E., Cunningham, Julie M., Wu, Yanhong, Dyck, Peter J.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543870/
https://ncbi.nlm.nih.gov/pubmed/21987543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.225
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