Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-...

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Detalles Bibliográficos
Autores principales: Schon, Katherine, Spasic-Boskovic, Olivera, Brugger, Kim, Graves, Tracey D., Abbs, Stephen, Park, Soo-Mi, Ambegaonkar, Gautam, Armstrong, Ruth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243894/
https://www.ncbi.nlm.nih.gov/pubmed/28063088
http://dx.doi.org/10.1007/s10048-016-0504-2

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