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Congenital myotonia
- ... 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 ...
- ... underlie the muscle stiffness characteristic of potassium-aggravated myotonia. More About This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na( ...
- ... with this disorder often have prolonged muscle contractions (myotonia) and ... with the more severe, congenital form of myotonic dystrophy type 1 tend to ...
