Clinical and genetic diversities of Charcot-Marie-Tooth disease withMFN2mutations in a large case study-Reference-Cited by-同舟云学术

Clinical and genetic diversities of Charcot-Marie-Tooth disease withMFN2mutations in a large case study

Published:2017-07-30 Issue:3 Volume:22 Page:191-199
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Ando Masahiro¹^ORCID,Hashiguchi Akihiro¹,Okamoto Yuji¹,Yoshimura Akiko¹^ORCID,Hiramatsu Yu¹,Yuan Junhui¹^ORCID,Higuchi Yujiro¹,Mitsui Jun²,Ishiura Hiroyuki²^ORCID,Umemura Ayako³,Maruyama Koichi³,Matsushige Takeshi⁴,Morishita Shinichi⁵,Nakagawa Masanori⁶,Tsuji Shoji²,Takashima Hiroshi¹

Affiliation:

1. Department of Neurology and Geriatrics; Kagoshima University Graduate School of Medical and Dental Sciences; Kagoshima Japan

2. Department of Neurology, Graduate School of Medicine; The University of Tokyo; Tokyo Japan

3. Department of Pediatric Neurology; Aichi Prefectural Colony Central Hospital; Aichi Japan

4. Department of Pediatrics; Yamaguchi University Graduate School of Medicine; Yamaguchi Japan

5. Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences; The University of Tokyo; Chiba Japan

6. Department of Neurology, North Medical Center; Kyoto Prefectural University of Medicine; Kyoto Japan

Funder

Nervous and Mental Disorders and Research Committee

Applying Health and Technology of Ministry of Health, Welfare and Labor, Japan

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12228/fullpdf

Reference27 articles.

1. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan;Abe;J Hum Genet,2011

2. Epidemiologic study of Charcot-Marie-tooth disease: a systematic review;Barreto;Neuroepidemiology,2016

3. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families;Braathen;BMC Med Genet,2010

4. Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients;Brozkova;Mol Med Rep,2013

5. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations;Calvo;Arch Neurol,2009

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