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Miyoshi myopathy

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
Disease Ontology Description A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.
Mondo Term and Equivalent IDs
MONDO:0009685:  Miyoshi myopathy
GARD:0009676: 
MESH:C537480: 
NCIT:C118846: 
OMIMPS:254130: 
Orphanet:45448: