mitochondrial DNA depletion syndrome 11

Term ID

DOID:0080129

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. (2)

References

• MIM:615084
• ORDO:352447

Ontology

Human Disease   ( DOID:0080129 )