| H01365 | |
| H number | H01365 |
| Name | Leber hereditary optic neuropathy and dystonia |
| Description | Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | MT-ND6 [HSA:4541] [KO:K03884] MT-ND4 [HSA:4538] [KO:K03881] MT-ND1 [HSA:4535] [KO:K03878] MT-ND3 [HSA:4537] [KO:K03880] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C73.Y 9C40.B0 ICD-10: H47.2 MeSH: D029242 OMIM: 500001 |
| Reference | PMID:8016139 AUTHORS Jun AS, Brown MD, Wallace DC TITLE A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. JOURNAL Proc Natl Acad Sci U S A 91:6206-10 (1994) DOI:10.1073/pnas.91.13.6206 PMID:19458970 AUTHORS Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S TITLE Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. JOURNAL Neurogenetics 10:337-45 (2009) DOI:10.1007/s10048-009-0194-0 PMID:17562939 AUTHORS Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ TITLE A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. JOURNAL Arch Neurol 64:890-3 (2007) DOI:10.1001/archneur.64.6.890 |