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Article

Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.

Clinical neuropathology - 1 Jan 2000

Lv He, Wang Lu, Li Wurong, Qiao Xiaohui, Li Yuexing, Wang Zhaoxia, Yuan Yun

Abstract excerpt

Charcot-Marie-Tooth disease Type 2A2 (CMT2A2), caused by mitofusin 2 (MFN2) genes, has been clinically classified into two types: severe early-onset and mild benign. Here we reported 3 early onset patients with different progressive courses. The 3 patients had mutations R94W, R364W and a novel W740R in the MFN2 gene. Two patients presented with progressive distal limb muscle weakness and wasting from the ages of...

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Identifiers

PMID: 22762946
DOI: 10.5414/NP300464

Genes

MFN2

Provenance

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