Charcot Marie Tooth disease type 4J with complex central nervous system features

We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949‐10...

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Detalles Bibliográficos
Autores principales: Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817837/
https://www.ncbi.nlm.nih.gov/pubmed/29468183
http://dx.doi.org/10.1002/acn3.525

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