Gene Expression Ontology

Last uploaded: December 16, 2015
Id http://identifiers.org/omim/255700
http://identifiers.org/omim/255700
Preferred Name

Myotonia congenita, autosomal recessive

Definitions
(MCR) - 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).
Synonyms
MCR
Type http://www.w3.org/2002/07/owl#Class
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