Department of Clinical Neuroscience and Physiology, Section of Clinical Neuroscience and Rehabilitation, Sahlgrenska University Hospital, Gothenburg, Sweden.
Acta Neurol Scand. 2012 Apr;125(4):285-7. doi: 10.1111/j.1600-0404.2011.01608.x. Epub 2011 Oct 27.
Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD.
To describe that episodes with myoglobinuria, often associated with exercise-induced myalgia, may be common and a presenting symptom in patients with LGMD2I.
Data on episodes of suspected myoglobinuria and myalgia were collected from the patient records on 14 patients with a diagnosis of LGMDI.
Five LGMD2I patients reported recurrent episodes of dark urine and myalgia after exercise, and in three of them, this was the only symptom for several years.
We conclude that episodes compatible with exercise-induced myoglobinuria may be frequent in LGMD2I.
与 FKRP 相关蛋白基因突变（MIM*606596）可导致一种先天性肌营养不良症（MDC1C）和肢带型肌营养不良症 2I 型（LGMD2I）。运动诱导的肌红蛋白尿，常发生于代谢性肌病中，在 Becker 肌营养不良症和少数 LGMD 病例中已有描述。
描述肌红蛋白尿发作，常伴有运动诱导的肌肉疼痛，可能在 LGMD2I 患者中常见且为首发症状。
从 14 名 LGMDI 诊断患者的病历中收集疑似肌红蛋白尿和肌痛发作的资料。
5 名 LGMD2I 患者报告在运动后反复出现深色尿液和肌肉疼痛，其中 3 名患者在数年内仅出现此症状。
我们得出结论，LGMD2I 中运动诱导的肌红蛋白尿发作可能较为频繁。
