First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features-Reference-Cited by-同舟云学术

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First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

Published:2021-12 Issue: Volume:Volume 14 Page:473-479
ISSN:1178-704X
Container-title:The Application of Clinical Genetics
language:en
Short-container-title:TACG

Author:

Olave-Rodriguez Jorge Andres,Bonilla-Escobar Francisco Javier,Candelo Estephania^ORCID,Rodriguez-Rojas Lisa Ximena

Publisher

Informa UK Limited

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

2. Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions

3. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia

4. The skeletal muscle sodium and chloride channel diseases

5. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report;Human Gene;2022-12

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