A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Lois DankwaJessica RichardsonWilliam W MotleyStephan ZüchnerSteven S SchererPublished in: Journal of the peripheral nervous system : JPNS (2018)
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.