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DNA2-related mitochondrial DNA deletion syndrome

Disease definition

A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.


Classification level: Disorder
  • Synonym(s):
    • Mitochondrial DNA deletion syndrome with limb-girdle weakness
    • Mitochondrial DNA deletion syndrome with progressive myopathy
    • mtDNA deletion syndrome with limb-girdle weakness
    • mtDNA deletion syndrome with progressive myopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G71.3
  • OMIM: 615156
  • UMLS: C5192959
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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