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.
Keywords:
CMT; Charcot-Marie-Tooth disease; neuropathy.
© 2018 Peripheral Nerve Society.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Charcot-Marie-Tooth Disease / genetics*
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Female
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GTP Phosphohydrolases / genetics*
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Humans
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Male
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Middle Aged
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Mitochondrial Proteins / genetics*
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Mutation, Missense
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Pedigree
Substances
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Mitochondrial Proteins
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GTP Phosphohydrolases
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MFN2 protein, human
Supplementary concepts
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Charcot-Marie-Tooth disease, Type 2A