A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
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ABSTRACT:
SUBMITTER: Dankwa L
PROVIDER: S-EPMC5851840 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Publications
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa Lois L Richardson Jessica J Motley William W WW Züchner Stephan S Scherer Steven S SS
Journal of the peripheral nervous system : JPNS 20180206 1
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. ...[more]
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