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Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2020-09-01 , DOI: 10.1016/j.nmd.2020.07.010
Thomas Claeys 1 , Veerle Goosens 2 , Valérie Racé 3 , Tom Theys 4 , Dietmar R Thal 5 , Christophe E Depuydt 6 , Kristl G Claeys 7
Affiliation  

Heterozygous mutations in the stromal interaction molecule-1-gene (STIM1) cause a clinical phenotype varying from tubular aggregate myopathy with single or multiple signs of Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous mutation c.325C > T (p.H109Y) in the EF-hand domain of STIM1 in six patients of a large Belgian family, and performed a detailed clinical (N = 6), histopathological (N = 2) and whole-body muscle MRI (N = 3) study. The clinical phenotype was characterized by a slowly progressive, predominant proximal muscle weakness in all patients (100%), and additional exercise-induced myalgia in three (60%). Patients experienced symptom onset between 10 and 20 years, remained ambulatory into late adulthood, showed elevated serum creatine kinase levels and tubular aggregates in type 1 and type 2 fibers on muscle biopsy. Interestingly, jaw contractures and hyperlaxity, as well as non-muscular multisystemic features such as menorrhagia, easy bruising and ichthyosis occurred in one patient, and miosis in another. Whole-body muscle MRI revealed predominant involvement of superficial neck extensors, subscapularis, obliquus abdominis externus, lumbar extensors, rectus femoris, biceps femoris longus, medial head of gastrocnemius and flexor hallucis longus. Our findings in patients with myopathy with tubular aggregates and a STIM1 mutation further support the concept of a continuous spectrum with Stormorken syndrome.

中文翻译:

一个患有肾小管聚集性肌病和新型 STIM1 突变的家族的临床和肌肉 MRI 特征

基质相互作用分子 1 基因 (STIM1) 中的杂合突变导致临床表型从具有单一或多个 Stormorken 综合征症状的管状聚集肌病到完整的 Stormorken 表型不等。我们在比利时一个大家族的 6 名患者的 STIM1 的 EF 手域中发现了一个新的杂合突变 c.325C > T (p.H109Y),并进行了详细的临床 (N = 6)、组织病理学 (N = 2)和全身肌肉 MRI (N = 3) 研究。临床表型的特征是所有患者 (100%) 均缓慢进展、主要是近端肌肉无力,另外 3 名患者 (60%) 出现运动诱发的肌痛。患者在 10 到 20 年间出现症状,直到成年后期仍能走动,在肌肉活检中显示血清肌酸激酶水平升高和 1 型和 2 型纤维中的管状聚集体。有趣的是,一名患者出现下颌挛缩和过度松弛,以及非肌肉多系统特征,如月经过多、易瘀伤和鱼鳞病,另一名出现瞳孔缩小。全身肌肉 MRI 显示主要受累为浅颈伸肌、肩胛下肌、腹外斜肌、腰伸肌、股直肌、股长二头肌、腓肠肌内侧头和拇长屈肌。我们在患有肾小管聚集体和 STIM1 突变的肌病患者中的发现进一步支持了 Stormorken 综合征连续谱的概念。一名患者出现易瘀伤和鱼鳞病,另一名患者出现瞳孔缩小。全身肌肉 MRI 显示主要受累为浅颈伸肌、肩胛下肌、腹外斜肌、腰伸肌、股直肌、股长二头肌、腓肠肌内侧头和拇长屈肌。我们在患有肾小管聚集体和 STIM1 突变的肌病患者中的发现进一步支持了 Stormorken 综合征连续谱的概念。一名患者出现易瘀伤和鱼鳞病,另一名患者出现瞳孔缩小。全身肌肉 MRI 显示主要受累为浅颈伸肌、肩胛下肌、腹外斜肌、腰伸肌、股直肌、股长二头肌、腓肠肌内侧头和拇长屈肌。我们在患有肾小管聚集体和 STIM1 突变的肌病患者中的发现进一步支持了 Stormorken 综合征连续谱的概念。
更新日期:2020-09-01
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