The First Report of a Japanese Case of Seipinopathy with a <i>BSCL2</i> N88S Mutation-Reference-Cited by-同舟云学术

The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation

Published:2018 Issue:4 Volume:57 Page:613-615
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Minami Kazushi¹,Takahashi Shinichi¹,Nihei Yoshihiro¹,Oki Koichi¹,Suzuki Shigeaki¹,Ito Daisuke¹,Takashima Hiroshi²,Suzuki Norihiro¹

Affiliation:

1. Department of Neurology, Keio University School of Medicine, Japan

2. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/57/4/57_8765-16/_pdf

Reference9 articles.

1. 1. Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132: 8-15, 2009.

2. 2. Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics 36: 271-276, 2004.

3. 3. Choi BO, Park MH, Chung KW, et al. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics 14: 35-42, 2013.

4. 4. Hsiao CT, Tsai PC, Lin CC, et al. Clinical and molecular characterization of BSCL2 mutations in a Taiwanese cohort with hereditary neuropathy. PloS One 11: e0147677, 2016.

5. 5. Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 57: 415-424, 2005.

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