肌腺苷酸脱氨酶缺乏引起的肌病
基因病名称(英)
Myopathy due to myoadenylate deaminase deficiency
别名(英)
Adenosine monophosphate deaminase deficiency muscle type,AMPD1 deficiency,AMP deaminase deficiency muscle type,MAD deficiency,Myoadenylate deaminase deficiency
别名
腺苷一磷酸脱氨酶缺乏肌型,AMPD1缺乏症,AMP脱氨酶缺乏肌型,MAD缺乏症,肌腺苷酸脱氨酶缺乏症
统计
reviewed:1; annotated:0
交叉引用
615511,C0268123,C3714933,D008661
描述(英)
A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.
描述
一种导致运动相关肌病的代谢紊乱。它的特点是运动引起的肌肉酸痛、痉挛和早期疲劳。