Details of Disease

General Information of Disease (ID: DIS3O1UR)

Disease Name Miyoshi myopathy
Synonyms muscular dystrophy, distal, late onset, autosomal recessive; MMD1; Miyoshi muscular dystrophy 1; Miyoshi muscular dystrophy type 1; Miyoshi distal myopathy; Miyoshi muscular dystrophy; MM
Definition 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 Hierarchy
DIS7F5R0: Distal myopathy
DIS3O1UR: Miyoshi myopathy
Disease Identifiers
MONDO ID
MONDO_0009685
MESH ID
C537480
UMLS CUI
C5553104
MedGen ID
1790866
Orphanet ID
45448

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DYSF TTA7MXQ Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DYSF OTNSKJU0 Supportive Autosomal recessive [1]
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References

1 Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910.