一名健康青春期女孩的复发性运动诱发性横纹肌溶解症
Recurrent Exercise-Induced Rhabdomyolysis in a Healthy Adolescent Girl.
作者信息
Longobardi Nicolas C, Longobardi Yen
机构信息
Medicine, St. George's Hospital Medical School, London, GBR.
Pediatrics, Yen Longobardi, M.D, Rhode Island, USA.
出版信息
Cureus. 2020 Nov 12;12(11):e11462. doi: 10.7759/cureus.11462.
Abstract
Female symptomatic carriers of Duchenne muscular dystrophy (DMD) are uncommon findings. Much of this disease has been studied from a male perspective, but female disease presentation and progression are rarely described. This report describes a female adolescent patient with a rare and unconventional presentation of DMD.
摘要
杜氏肌营养不良症（DMD）有症状的女性携带者并不常见。该疾病大多是从男性角度进行研究的，但很少描述女性患者的疾病表现和进展情况。本报告描述了一名患有罕见且非典型DMD的青春期女性患者。
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2
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Mol Med Rep. 2019 Apr;19(4):3035-3044. doi: 10.3892/mmr.2019.9982. Epub 2019 Feb 25.
3
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