[自体递归的四肢-腰带肌肉缩-10. 案例报告] 案例报告]
Alan Alberto Pérez-Arzola1, Daniela Juárez-Melchor1, Israel Enrique Crisanto-López1
1Instituto Mexicano del Seguro Social, Hospital General de Zona No. 20 "La Margarita". Servicio de Genética Médica. Puebla, Puebla, México.
Revista medica del Instituto Mexicano del Seguro Social
|April 23, 2025
概括
自体逆性四肢腰带肌肉发育不良-10 (LGMDR10),一种小腿病变,在墨西哥首次报告. 这一案例凸显了早期诊断对于管理这种进展性神经肌肉疾病的重要性.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 肌肉发育不良的研究 肌肉发育不良研究
背景情况:
- 肢体腰带肌肉发育不良-10 (LGMDR10) 是一种自体逆向的神经肌肉疾病.
- 它是由TTN基因的致病变异引起的,该基因编码的蒂蛋白对肌肉功能至关重要.
- 临床表现包括近端肌肉衰弱,缩和不同程度的远端肌肉参与.
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