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Compton-North congenital myopathy

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band.
Mondo Term and Equivalent IDs
MONDO:0012929:  Compton-North congenital myopathy
MESH:C567261: 
Orphanet:210163: 
UMLS:C2675527: