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myotonia congenita, autosomal recessive

Disease Summary
Associated Targets (2)




Mondo Description Autosomal recessive form of myotonia congenita.
Uniprot Description A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).
Mondo Term and Equivalent IDs
MONDO:0009715:  myotonia congenita, autosomal recessive