CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

OBJECTIVE: We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS: We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized...

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Detalles Bibliográficos
Autores principales: Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821082/
https://www.ncbi.nlm.nih.gov/pubmed/27066538
http://dx.doi.org/10.1212/NXG.0000000000000003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821082/
https://www.ncbi.nlm.nih.gov/pubmed/27066538
http://dx.doi.org/10.1212/NXG.0000000000000003

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