Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Abstract Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease) and recessive form (Becker disease) and both are caused by pathoge...

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Bibliographic Details
Main Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Myotonia congenita
Becker disease
Functional analysis
Splicing
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01128-5

Internet

http://link.springer.com/article/10.1186/s12881-020-01128-5

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