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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Detalhes bibliográficos
Publicado no:Acta Myol
Main Authors: NEGRÃO, LUÍS, ALMENDRA, LUCIANO, RIBEIRO, JOANA, MATOS, ANABELA, GERALDO, ARGEMIRO, PINTO-BASTO, JORGE
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SpA 2014
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4369850/
https://ncbi.nlm.nih.gov/pubmed/25873783
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