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

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.

SUBMITTER: Dankwa L 

PROVIDER: S-EPMC5851840 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature