Terminology Service for NFDI4Health
Miyoshi Muscular Dystrophy 1
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http://purl.obolibrary.org/obo/NCIT_C118846
A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs. [ ]
Term info
Label
Miyoshi Muscular Dystrophy 1
Synonyms
- MMD1
- Miyoshi Muscular Dystrophy 1
Preferred Name
Miyoshi Muscular Dystrophy 1
Semantic Type
Disease or Syndrome
UMLS CUI
C1850808
code
C118846