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Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease

24 Apr 2019

Abstract excerpt

Background. Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth (CMT) disease and over 80 different mutations have been identified so far. This study analyzed the clinical and genetic characteristics of a Vietnamese CMT family that was affected by a novel GDAP1 mutation. Methods. We present three children of a family with progressive weakness, mild sensory loss, and absent...

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PMID: 31179332
DOI: 10.1155/2019/7132494

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