OBO ID: DOID:0080129
Term Name: mitochondrial DNA depletion syndrome 11 Search Ontology:
Synonyms:
  • progressive external ophthalmoplegia-myopathy-emaciation syndrome
Definition: A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (3)
References:
Ontology: Human Disease   (DOID:0080129)
OTHER mitochondrial DNA depletion syndrome 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MGME1 Mitochondrial DNA depletion syndrome 11 615084
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None