A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

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Abstract

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.

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