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| McLeod syndrome ： ウィキペディア英語版 |
McLeod syndrome
McLeod syndrome (or McLeod phenomenon; ) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively-inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface.
==Clinical features==
Patients usually begin to notice symptoms in their 50s and the course is usually slowly progressive. Common features include peripheral neuropathy, cardiomyopathy, and hemolytic anemia. Other features include limb chorea, facial tics, other oral movements (lip and tongue biting), seizures, a late-onset dementia, and behavioral changes.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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