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

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 dise...

Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov Tags: Case Report Source Type: research