Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review-Reference-Cited by-同舟云学术

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Published:2022-02-16 Issue:1 Volume:16 Page:35-46
ISSN:1933-6950
Container-title:Channels
language:en
Short-container-title:Channels

Author:

Li Yifan¹,Li Mao²,Wang Zhenfu¹,Yang Fei²,Wang Hongfen²,Bai Xiujuan¹,Sun Bo¹,Chen Siyu¹,Huang Xusheng²^ORCID

Affiliation:

1. Geriatric Neurological Department of the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese Pla General Hospital, Beijing, China

2. Department of Neurology of the First Medical Center, Chinese Pla General Hospital, Beijing, China

Funder

no funding associated

Publisher

Informa UK Limited

Subject

Biochemistry,Biophysics

Link

https://www.tandfonline.com/doi/pdf/10.1080/19336950.2022.2041292

Reference48 articles.

1. The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

2. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

3. The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

4. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature

5. Chapter 2 Myotonia Congenita

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4. Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children;Journal of Neuromuscular Diseases;2023-09-08

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