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Congenital myotonia
- ... to distinguish the two forms of myotonia congenita. Congenital myotonia Genetic Testing Registry: Congenital myotonia, autosomal dominant form Genetic Testing Registry: 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 ...
- ... to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic ...
- ... 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 ...
- ... 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: ...
