A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.

ABSTRACT:

Background

Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathy. The major clinical features of CMT are progressive muscle weakness of distal extremities and sensory loss. MFN2 encodes a GTPase dynamin-like protein mitofusin 2 and plays an essential role in mitochondrial functions. In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2). Here, we report a novel mutation in MFN2 which leads to CMT 2.

Case presentation

We report a 4-year-old Chinese boy with CMT symptoms including foot-drop gait, running difficulties, frequent falls, slowly progressive atrophy of lower legs with a mildly foot deformity. Nerve conduction velocity study (NCVS) found that no compound motor action potential

SUBMITTER: Yang Y 

PROVIDER: S-EPMC4784292 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature