Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation-Reference-Cited by-同舟云学术

Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation

Published:2023-12-20 Issue:1 Volume:11 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Hayashi Hideki,Saito Rie^ORCID,Tanaka Hidetomo,Hara Norikazu,Koide Shin,Yonemochi Yosuke,Ozawa Tetsuo,Hokari Mariko,Toyoshima Yasuko,Miyashita Akinori,Onodera Osamu,Okamoto Kouichirou,Ikeuchi Takeshi,Nakajima Takashi,Kakita Akiyoshi

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1186/s40478-023-01692-w.pdf

Reference9 articles.

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3. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW et al (2006) Early onset severe and late-onset mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129:2103–2118

4. Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH et al (2010) Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. J Neurol Neurosurg Psychiatry 81:1203–1206

5. El Fissi N, Rojo M, Aouane A, Karatas E, Poliacikova G, David C et al (2018) Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy. EMBO Rep 19:e45241