A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation-Reference-Cited by-同舟云学术

A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation

Published:2019-07-15 Issue:14 Volume:58 Page:2091-2093
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Kanemaru Kazuki¹,Ogawa Go¹,Mochizuki Hitoshi¹,Nakazato Masamitsu¹,Shiomi Kazutake¹

Affiliation:

1. Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/58/14/58_2318-18/_pdf

Reference20 articles.

1. 1. Landouré G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 42: 170-174, 2010.

2. 2. Chen DH, Sul Y, Weiss M, et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 75: 1968-1975, 2010.

3. 3. Thomas PK, Marques W Jr, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120: 465-478, 1997.

4. 4. Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 131: 3051-3061, 2008.

5. 5. Züchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36: 449-451, 2004.

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