※ PTMD 2.0 database Online Browse Options
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
Reference
OMIM: Progressive external ophthalmoplegia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02235 | O00142 | 7084 | TK2 | Thymidine kinase 2, mitochondrial | Homo sapiens |
| PTMD01661 | P54098 | 5428 | POLG | DNA polymerase subunit gamma-1 | Homo sapiens |
| PTMD04108 | P12235 | 291 | SLC25A4 | ADP/ATP translocase 1 | Homo sapiens |
| PTMD05430 | P51530 | 1763 | DNA2 | DNA replication ATP-dependent helicase/nuclease DNA2 [Includes: DNA replication nuclease DNA2 ; DNA replication ATP-dependent helicase DNA2 ] | Homo sapiens |
| PTMD07181 | Q16854 | 1716 | DGUOK | Deoxyguanosine kinase, mitochondrial | Homo sapiens |
| PTMD11717 | Q96RR1 | 56652 | TWNK | Twinkle mtDNA helicase | Homo sapiens |
