Clinicopathologic Features of Two Unrelated Autopsied Patients with Charcot-Marie-Tooth Disease Carrying MFN2 Gene Mutation
Overview
Overview
Journal
Acta Neuropathol Commun
Publisher
Biomed Central
Specialty
Neurology
Date
2023 Dec 21
PMID
38124143
Authors
Authors
Affiliations
Affiliations
Soon will be listed here.
References
1.
Chandhok G, Lazarou M, Neumann B
. Structure, function, and regulation of mitofusin-2 in health and disease. Biol Rev Camb Philos Soc. 2017; 93(2):933-949.
PMC: 6446723.
DOI: 10.1111/brv.12378.
View
2.
El Fissi N, Rojo M, Aouane A, Karatas E, Poliacikova G, David C
. Mitofusin gain and loss of function drive pathogenesis in models of CMT2A neuropathy. EMBO Rep. 2018; 19(8).
PMC: 6073211.
DOI: 10.15252/embr.201745241.
View
3.
Pipis M, Feely S, Polke J, Skorupinska M, Perez L, Shy R
. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2021; 143(12):3589-3602.
PMC: 7805791.
DOI: 10.1093/brain/awaa323.
View
4.
Chung K, Kim S, Park K, Choi K, Lee J, Eun H
. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006; 129(Pt 8):2103-18.
DOI: 10.1093/brain/awl174.
View
5.
Feely S, Laura M, Siskind C, Sottile S, Davis M, Gibbons V
. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011; 76(20):1690-6.
PMC: 3100135.
DOI: 10.1212/WNL.0b013e31821a441e.
View