Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family

BACKGROUND: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients...

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Detalles Bibliográficos
Autores principales: Martin, Angela M, Maradei, Silvia J, Velasco, Harvy M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732510/
https://www.ncbi.nlm.nih.gov/pubmed/26848201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732510/
https://www.ncbi.nlm.nih.gov/pubmed/26848201

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