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Mitochondrial DNA depletion syndrome, myopathic form

Synonym(s) mtDNA depletion syndrome, myopathic form
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • G71.3
MeSH -
MedDRA -


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.

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Detailed information

Clinical genetics review
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