A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Issue 1 (6th February 2018)

• Record Type: Journal Article
• Authors: Dankwa, Lois; Richardson, Jessica; Motley, William W.; Züchner, Stephan; Scherer, Steven S.
• Is Part Of: Journal of the peripheral nervous system. Volume 23:Issue 1(2018)
• Page Start: 36
• Page End: 39
• Publication Date: 2018-02-06
• Subjects: Charcot‐Marie‐Tooth disease -- CMT -- neuropathy; Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns.12248
• Languages: English
• ISSNs: 1085-9489

Abstract

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.