A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Lois Dankwa,Jessica Richardson,William W Motley,Mena Scavina,Steve Courel,Tanya Bardakjian,Stephan Züchner,Steven S Scherer

Neuromuscular Disorders（2019）

引用 5|浏览25

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摘要

•We describe a previously unreported p.Arg95Gly mutation in MFN2.•Variable clinical severity is seen across four generations.•Segregation analysis requires careful evaluation of at risk patients.

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关键词

Charcot-Marie-Tooth disease Type 2,CMT2A,Multigenerational affection,Variable penetrance,Late-onset axonal neuropathy

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