坎普托科尔米亚作为麦克阿德尔病的特征:一个病例报告
Mathilde Nicolas1,2, Chloé Giret1,2, Sybille Pellieux3
1CHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France.
Molecular genetics and metabolism reports
|February 21, 2025
概括
糖原储存疾病5型 (GSD 5),一种肌肉疾病,可以呈现与camptocormia,一个严重的轴心肌肉病变. 这一发现表明,坎普托科尔米亚可能是GSD 5的初始症状.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 糖原储存疾病5型 (GSD 5) 是一种遗传性代谢肌病.
- 它是由PYGM基因中的致病变体引起的.
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