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Myopathy and diabetes mellitus

Disease definition

A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

ORPHA:2596

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: G71.3
  • OMIM: 500002
  • UMLS: C1839028
  • MeSH: -
  • GARD: 3881
  • MedDRA: -
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