A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2

INTRODUCTION: Mutations within TFG gene were recently reported to cause Charcot‐Marie‐Tooth disease 2 (CMT2). However, only few pedigrees were documented so far. Here, we reported a Chinese CMT2 pedigree with 8 affected cases and a novel TFG mutation. METHODS: Clinical evaluation and electrophysiolo...

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Detalles Bibliográficos
Autores principales: Wu, Ding‐Wen, Li, Yanfang, Yin, Xinzhen, Zhang, Baorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507360/
https://www.ncbi.nlm.nih.gov/pubmed/32666699
http://dx.doi.org/10.1002/brb3.1724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507360/
https://www.ncbi.nlm.nih.gov/pubmed/32666699
http://dx.doi.org/10.1002/brb3.1724

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