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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
Journal article   Open access  Peer reviewed

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

Lois Dankwa, Jessica Richardson, William W Motley, Stephan Züchner and Steven S Scherer
Journal of the peripheral nervous system, Vol.23(1), pp.36-39
2018-03
DOI: https://doi.org/10.1111/jns.12248
PMCID: PMC5851840
PMID: 29341354

Abstract

neuropathy Charcot‐Marie‐Tooth disease CMT
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.
url
https://doi.org/10.1111/jns.12248View
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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.197 Molecular & Cell Biology - Mitochondria
1.197.564 Mitochondrial DNA
Web Of Science research areas
Clinical Neurology
Neurosciences
ESI research areas
Neuroscience & Behavior

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