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Miyoshi myopathy MeSH Supplementary Concept Data 2025


MeSH Supplementary
Miyoshi myopathy
Unique ID
C537480
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537480
Entry Term(s)
Miyoshi Muscular Dystrophy 1
Miyoshi distal myopathy
Miyoshi myopathy 1
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
Muscular dystrophy, distal, late onset, autosomal recessive
mmd1 myopathy
Registry Numbers
0
Heading Mapped to
*Muscular Atrophy
*Distal Myopathies
Frequency
35
Note
An autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness and atrophy affecting the upper and lower limbs but sparing the intrinsic hand muscles. The SKELETAL MUSCLES are particularly affected and progression can involve the thigh and gluteal muscles. Patients have difficulty walking, but usually remain ambulatory. Serum CREATINE KINASE is increased and muscle biopsies show myopathic and dystrophic changes with NECROSIS. Mutations in the DYSF gene have been identified. OMIM: 254130
Date of Entry
2010/08/25
Revision Date
2021/12/10
Miyoshi myopathy Preferred
Miyoshi Muscular Dystrophy 1 Narrower
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive Narrower
mmd1 myopathy Narrower
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