Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

Muscle Nerve. 2018 May;57(5):E126-E128. doi: 10.1002/mus.26047. Epub 2018 Jan 26.

Authors

Brett A McCray¹, William Hurst¹, Thomas O Crawford^{1

2}, Thomas E Lloyd^{1

3}

Affiliations

¹ Department of Neurology, Johns Hopkins University School of Medicine, John G. Rangos Building, 855 North Wolfe Street, Suite 227 Baltimore, Maryland, 21205, USA.
² Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
³ Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

PMID: 29266326
DOI: 10.1002/mus.26047

No abstract available

Keywords: CMT2; CMT2A; Charcot-Marie-Tooth disease; axonal neuropathy; inherited neuropathy; mitofusin 2.

Publication types

Case Reports

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology*
GTP Phosphohydrolases / genetics*
Humans
Longitudinal Studies
Male
Mitochondrial Proteins / genetics*
Muscle Strength / genetics
Mutation / genetics*
Young Adult

Substances

Mitochondrial Proteins
GTP Phosphohydrolases
MFN2 protein, human

Supplementary concepts

Charcot-Marie-Tooth disease, Type 2A