| H01365 | |
| H番号 | H01365 |
| 名称 | レーバー遺伝性視神経萎縮症 およびジストニア |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | MT-ND6 [HSA:4541] [KO:K03884] MT-ND4 [HSA:4538] [KO:K03881] MT-ND1 [HSA:4535] [KO:K03878] MT-ND3 [HSA:4537] [KO:K03880] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C73.Y 9C40.B0 ICD-10: H47.2 MeSH: D029242 OMIM: 500001 |
| 文献 | PMID:8016139 著者 Jun AS, Brown MD, Wallace DC タイトル 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. 雑誌 Proc Natl Acad Sci U S A 91:6206-10 (1994) DOI:10.1073/pnas.91.13.6206 PMID:19458970 著者 Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S タイトル Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 雑誌 Neurogenetics 10:337-45 (2009) DOI:10.1007/s10048-009-0194-0 PMID:17562939 著者 Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ タイトル A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 雑誌 Arch Neurol 64:890-3 (2007) DOI:10.1001/archneur.64.6.890 |