| H01427 | |
| H番号 | H01427 |
| 名称 | ミトコンドリア病 |
| 概要 | Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For details, please refer to each entry. See also H00473 Mitochondrial respiratory chain deficiencies. |
| リンク | ICD-11: 5C53 ICD-10: E88 MeSH: D028361 |
| 文献 | PMID:20301403 著者 Chinnery PF タイトル Mitochondrial Disorders Overview 雑誌 GeneReviews (1993) |