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Congenital "myotonia," autosomal recessive form
- ... Congenital myotonia, autosomal dominant form Genetic Testing Registry: Congenital myotonia, autosomal recessive form Genetic Testing Registry: Batten-Turner congenital myopathy Thomsen ...
- Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present ... Myotonia congenita is caused by a genetic change (genetic variant). It is passed down from either one or ...
- ... 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 ...
- Muscle Disorders (National Library of Medicine)Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
- Neuromuscular Disorders (National Library of Medicine)Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
- From the National Institutes of Health
