Ontology highlight
ABSTRACT:
SUBMITTER: Mai PT
PROVIDER: S-EPMC6507255 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Mai Phuong-Thao PT Le Dong-Truc DT Nguyen Tan-Trung TT Le Gia Hoang-Linh HL Nguyen Le Trung-Hieu TH Le Minh M Do Duc-Minh DM
BioMed research international 20190424
<h4>Background</h4>Mutations of <i>GDAP1</i> 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 <i>GDAP1</i> mutation.<h4>Methods</h4>We present three children of a family with progressive weakness, mild sensory loss, and absent tendon reflexes. Electrodiagnostic analyses displayed an ...[more]