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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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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.
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