MeSH Browser

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 Number: 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 MeSH Supplementary Concept Data 2023