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

Lois Dankwa; Jessica Richardson; William W. Motley; Stephan Züchner; Steven S. Scherer

doi:10.1111/jns.12248

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

Lois Dankwa
, Jessica Richardson
, William W. Motley
, Stephan Züchner
, Steven S. Scherer

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	36-39
Number of pages	4
Journal	Journal of the Peripheral Nervous System
Volume	23
Issue number	1
DOIs	https://doi.org/10.1111/jns.12248
State	Published - Mar 2018
Externally published	Yes

Keywords

CMT
Charcot-Marie-Tooth disease
neuropathy

ASJC Scopus subject areas

General Neuroscience
Clinical Neurology

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10.1111/jns.12248

Cite this

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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, {\textquotedblleft}classical CMT2,{\textquotedblright} 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",

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AU - Züchner, Stephan

AU - Scherer, Steven S.

PY - 2018/3

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AB - 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.

KW - CMT

KW - Charcot-Marie-Tooth disease

KW - neuropathy

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

Abstract

Keywords

ASJC Scopus subject areas

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