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"Batten-Turner" congenital myopathy
- ... Congenital myotonia, autosomal recessive form Genetic Testing Registry: Batten-Turner congenital myopathy Thomsen and Becker disease National Organization for Rare ...
- ... 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 ...