Aboumousa Ahmed, Hoogendijk Jessica, Charlton Richard, Barresi Rita, Herrmann Ralf, Voit Thomas, Hudson Judith, Roberts Mark, Hilton-Jones David, Eagle Michelle, Bushby Kate, Straub Volker
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.
Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service for patients with limb girdle muscle dystrophy in Newcastle. Myalgia was the most prominent symptom in our cohort of patients and for 50% it was the reason for referral. Muscle weakness was only found in 60% of the patients, whereas rippling muscle movement was present in 80%. One of the patients reported episodes of myoglobinuria and another one episodes of hypoglycaemia. Five different mutations were identified, two of which were novel and three that had previously been described. Caveolinopathy needs to be considered as a differential diagnosis in a range of clinical situations, including in patients who do not have any weakness. Indeed, rippling muscles are a more frequent symptom than weakness, and can be detected in childhood. Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life.
小窝蛋白3基因（CAV3）突变可导致广泛的临床表型。迄今为止，与原发性小窝蛋白3缺乏相关的表型包括肢带型肌营养不良、波纹肌病、远端肌病和高肌酸激酶血症。这是首篇描述来自英国的小窝蛋白病患者临床、病理和遗传特征的报告。通过纽卡斯尔肢带型肌营养不良患者的国家委托小组（NCG）服务，确定了10名患者（6个家系）。肌痛是我们患者队列中最突出的症状，50%的患者因肌痛前来就诊。仅60%的患者存在肌无力，而80%的患者有肌肉波纹样运动。1名患者报告有肌红蛋白尿发作，另1名患者有低血糖发作。鉴定出5种不同的突变，其中2种是新发现的，3种是先前已描述过的。在一系列临床情况下，包括在没有任何肌无力的患者中，都需要将小窝蛋白病作为鉴别诊断考虑。事实上，肌肉波纹样运动比肌无力更常见，且在儿童期即可检测到。以肌痛为表现很常见，对其以及肌红蛋白尿和低血糖的治疗可能会对患者的生活质量产生重大影响。
