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

ABSTRACT:

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 tendon reflexes. Electrodiagnostic analyses displayed an axonal type of neuropathy in affected patients. Sequencing of GDAP1 gene was requested for all members of the family.

Results

All affected individuals manifested identical clinical symptoms of motor and sensory impairments within the first three years of life, and nerve conduction stu

SUBMITTER: Mai PT 

PROVIDER: S-EPMC6507255 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature