A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family |
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| Authors: | Lois Dankwa Jessica Richardson William W Motley Stephan Züchner Steven S Scherer |
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| Institution: | 1. Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA;2. Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA;3. Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA |
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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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| Keywords: | Charcot‐Marie‐Tooth disease CMT neuropathy |
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