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Mitochondrial DNA depletion syndrome, myopathic form

Disease definition

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

ORPHA:254875

Classification level: Disorder
  • Synonym(s):
    • mtDNA depletion syndrome, myopathic form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 609560  618972
  • UMLS: C3501891
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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