| H00655 | |
| H番号 | H00655 |
| 名称 | McLeod 症候群 |
| 概要 | McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (MCLDS) XK [HSA:7504] [KO:K19522] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A01.1Y ICD-10: G10 MeSH: C564038 OMIM: 300842 |
| 文献 | PMID:18273731 著者 Finsterer J, Stollberger C タイトル Primary myopathies and the heart. 雑誌 Scand Cardiovasc J 42:9-24 (2008) DOI:10.1080/14017430701854953 PMID:8004674 著者 Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP タイトル Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. 雑誌 Cell 77:869-80 (1994) DOI:10.1016/0092-8674(94)90136-8 |