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Browse result for Progressive external ophthalmoplegia

※ introduction

    Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).

Reference
OMIM: Progressive external ophthalmoplegia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02235O001427084
TK2
Thymidine kinase 2, mitochondrial
Homo sapiens
PTMD01661P540985428
POLG
DNA polymerase subunit gamma-1
Homo sapiens
PTMD04108P12235291
SLC25A4
ADP/ATP translocase 1
Homo sapiens
PTMD05430P515301763
DNA2
DNA replication ATP-dependent helicase/nuclease DNA2 [Includes: DNA replication nuclease DNA2 ; DNA replication ATP-dependent helicase DNA2 ]
Homo sapiens
PTMD07181Q168541716
DGUOK
Deoxyguanosine kinase, mitochondrial
Homo sapiens
PTMD11717Q96RR156652
TWNK
Twinkle mtDNA helicase
Homo sapiens