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

Abstract excerpt

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 electrophysiological study were performed in all the affected individuals. Whole-exome sequencing was conducted, followed by the...

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