Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

Introduction. CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction velocities are markedly reduced and focally folded myelin sheaths are present on nerve biopsies. We presented two patients fro...

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Detalles Bibliográficos
Autores principales: NEGRÃO, LUÍS, ALMENDRA, LUCIANO, RIBEIRO, JOANA, MATOS, ANABELA, GERALDO, ARGEMIRO, PINTO-BASTO, JORGE
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369850/
https://www.ncbi.nlm.nih.gov/pubmed/25873783

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