Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

BACKGROUND: We investigated 4 members of a family with type 2C Charcot-Marie-Tooth (CMT) and self-reported essential tremor (ET). A heterozygous missense mutation, R269H, in the TRPV4 gene was previously reported in this family. Our genotypic data provided a rare opportunity to determine the etiolog...

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Detalles Bibliográficos
Autores principales: Louis, Elan D., Hernandez, Nora, Ottman, Ruth, Ionita-Laza, Iuliana, Clark, Lorraine N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: January, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934698/
https://www.ncbi.nlm.nih.gov/pubmed/24575025
http://dx.doi.org/10.1159/000357665

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