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The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

CMT disease caused by NEFL gene mutations is rare. The mode of inheritance can be dominant or recessive and nerve conduction velocities can be normal, reduced (demyelinating) or presenting intermediate values. Two Portuguese adult related members in two successive generations were affected by periph...

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Detalles Bibliográficos
Autores principales: MACHADO, RITA, PINTO-BASTO, JORGE, NEGRÃO, LUÍS
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859411/
https://www.ncbi.nlm.nih.gov/pubmed/31788662