Article
A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.
Italian journal of pediatrics - 8 Mar 2016
Yang Yuan, Li Ling
Abstract excerpt
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...
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