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

• OMIM:617070
• ORDO:329314

Ontology

Human Disease   ( DOID:0111516 )