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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |