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Metadata
ID DOID:0111516
Name autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
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
Xrefs

OMIM:617070

ORDO:329314

Subsets

DO_rare_slim

Synonyms

adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [EXACT]

adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency [EXACT]

autosomal recessive progressive external ophthalmoplegia 4 [EXACT]

PEOB4 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal recessive disease

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