@article{be015e1bd7f74b3fab52e7bff8a5b50e,
title = "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.",
keywords = "CMT, Charcot-Marie-Tooth disease, neuropathy",
author = "Lois Dankwa and Jessica Richardson and Motley, {William W.} and Stephan Z{\"u}chner and Scherer, {Steven S.}",
note = "Funding Information: This work was supported by the Inherited Neuropathy Consortium (INC), Rare Disease Clinical Research Consortium funded by the National Institutes of Health (NINDS/ORD) and the Judy Seltzer Levenson Memorial Fund for CMT Research. The INC (U54 NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. We thank the family for participating in our work. We thank Tanya Bardakjian and Dr. David Herrmann for their help. Funding Information: This work was supported by the Inherited Neuropathy Consortium (INC), Rare Disease Clinical Research Consortium funded by the National Institutes of Health (NINDS/ORD) and the Judy Seltzer Levenson Memorial Fund for CMT Research. The INC (U54 NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. We thank the family for participating in our work. We thank Tanya Bardakjian and Dr. David Her-rmann for their help. Publisher Copyright: {\textcopyright} 2018 Peripheral Nerve Society",
year = "2018",
month = mar,
doi = "10.1111/jns.12248",
language = "English (US)",
volume = "23",
pages = "36--39",
journal = "Journal of the Peripheral Nervous System",
issn = "1085-9489",
publisher = "Wiley-Blackwell",
number = "1",
}