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Article

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

BMC medical genetics - 22 Oct 2020

Sparber Peter, Sharova Margarita, Filatova Alexandra, Shchagina Olga, Ivanova Evgeniya, Dadali Elena, Skoblov Mikhail

Abstract excerpt

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 pathogenic variants in the CLCN1 gene. Noncanonical splice site variants are often classified as variants of uncertain...

Topics

Child
Chloride Channels
Electromyography
Genetic Predisposition to Disease
Humans
Male
Muscle Contraction
Muscle, Skeletal
Myotonia Congenita
Protein Isoforms

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Identifiers

PMID: 33092578
DOI: 10.1186/s12881-020-01128-5
PMCID: PMC7579786

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