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Congenital "myotonia," autosomal dominant form
- ... of myotonia congenita. Congenital myotonia Genetic Testing Registry: Congenital myotonia, autosomal dominant form Genetic Testing Registry: Congenital myotonia, autosomal recessive form ...
- ... CLCN1 gene have been identified in people with myotonia congenita. Most of these mutations cause the autosomal recessive ... mutations also cause the autosomal dominant form of myotonia congenita, which is known as Thomsen disease. Autosomal dominant ...
- ... to late adulthood. Affected individuals typically have mild myotonia and cataracts. ... are inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita ... persistent paralysis associated with congenital paramyotonia. BMJ Case Rep. 2014 Jun 17;2014: ...
