Myotonia congenita, dominant (Q89049): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A miotonia congênita autossômica dominante (doença de Thomsen) é uma doença muscular não distrófica causada por mutação no gene que codifica o canal 1 de cloreto do músculo esquelético (CLCN1). É clinicamente caracterizado por rigidez muscular e uma incapacidade do músculo para relaxar após a contração voluntária.
@@ description / en / description / en @@
+Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction.
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+August 2026Timestamp +2026-08-13T00:00:00Z
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@@ Property / Collection date: 13 August 2026 / rank @@
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Latest revision as of 15:29, 15 August 2026

Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction.

Language	Label	Description	Also known as
default for all languages	ID_370025964
English	Myotonia congenita, dominant	Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction.