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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
Author(s) -
Dankwa Lois,
Richardson Jessica,
Motley William W.,
Züchner Stephan,
Scherer Steven S.
Publication year - 2018
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12248
Subject(s) - mfn2 , heptad repeat , phenotype , mutation , neuroscience , biology , medicine , genetics , gene , peptide sequence , mitochondrial fusion , mitochondrial dna
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.