The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system. Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A. The V705I variant in MFN2 has been previously reported as a dis...

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Detalles Bibliográficos
Autores principales: Albulym, Obaid M., Zhu, Danqing, Reddel, Stephen, Kennerson, Marina, Nicholson, Garth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437342/
https://www.ncbi.nlm.nih.gov/pubmed/26316991
http://dx.doi.org/10.1155/2013/495873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437342/
https://www.ncbi.nlm.nih.gov/pubmed/26316991
http://dx.doi.org/10.1155/2013/495873

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