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

• Main Authors: Peter Sparber (Author), Margarita Sharova (Author), Alexandra Filatova (Author), Olga Shchagina (Author), Evgeniya Ivanova (Author), Elena Dadali (Author), Mikhail Skoblov (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...