Charcot–Marie–Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease-Reference-Cited by-同舟云学术

Charcot–Marie–Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease

Published:2017-11-13 Issue:1 Volume:63 Page:89-92
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hikiami Ryota,Yamashita Hirofumi,Koita Natsuko,Jingami Naoto,Sawamoto Nobukatsu,Furukawa Kaoru,Kawai Hiromichi,Terashima Tomoya,Oka Nobuyuki,Hashiguchi Akihiro,Takashima Hiroshi,Urushitani Makoto^ORCID,Takahashi Ryosuke

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0353-3.pdf

Reference13 articles.

1. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006;129:2103–18.

2. Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006;129:2093–102.

3. Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, et al. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol. 2009;66:1511–6.

4. Choi BO, Nakhro K, Park HJ, Hyun YS, Lee JH, Kanwal S, et al. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Clin Genet. 2015;87:594–8.

5. Abe A, Numakura C, Kijima K, Hayashi M, Hashimoto T, Hayasaka K. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet. 2011;56:364–8.

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