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Updated: Jan 28, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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杜申肌力发育不良和甘激酶缺乏症与Xp21连续基因删除综合征相关的罕见同时发生:一个案例报告

Lúcia Marques1, Patrícia Lipari Pinto2, Joana Coelho3

  • 1Department of Pediatrics, Hospital Beatriz Ângelo, Lisbon, PRT.

Cureus
|January 26, 2026
PubMed
概括

糖醇激酶缺乏症,Xp21删除综合征的一部分,在患有杜氏肌肉发育不良的儿童中被诊断出. 早期的遗传鉴定使得最佳的多学科护理和营养管理成为可能.

关键词:
阵列-cghgh 在线复杂的甘油酶酶缺乏症.连续基因删除综合征杜切恩肌肉发育不良症 肌肉发育不良症智力障碍 智力障碍是一种智力障碍.

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