Ontology highlight
ABSTRACT:
SUBMITTER: Schon K
PROVIDER: S-EPMC5243894 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Schon Katherine K Spasic-Boskovic Olivera O Brugger Kim K Graves Tracey D TD Abbs Stephen S Park Soo-Mi SM Ambegaonkar Gautam G Armstrong Ruth R
Neurogenetics 20170106 1
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neurop ...[more]