Search Ontology:
Human Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Term ID
DOID:0111516
Synonyms
  • adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
  • adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
  • autosomal recessive progressive external ophthalmoplegia 4
  • PEOB4
Definition
A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/23043144
References
Ontology
Human Disease   ( DOID:0111516 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models