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myopathy, myosin storage, autosomal recessive

Disease Summary
Associated Targets (1)
Tclin

1


Uniprot Description An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0009708:  myopathy, myosin storage, autosomal recessive
DOID:0111268: 
MESH:C564970: 
UMLS:C1850709: