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首页> 外文期刊>Neuromuscular disorders: NMD >Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
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Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

机译：肾小管聚集性肌病，由于新的 STIM1 突变导致具有 Stormorken 病的特征

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摘要

STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here we present the case of a 41-year-old female complaining of exercise intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness with lower limb predominance, and ophthalmoplegia. Laboratory tests revealed hypocalcemia, mild anemia and elevated creatine kinase (CK) levels. Whole-body muscle magnetic resonance imaging (MRI) revealed asplenia. Muscle biopsy was consistent with TAM. STIM1 gene analysis disclosed the novel c.252T>A, p.D84E missense mutation which was shown to induce constitutive STIM1 clustering in a functional study. This study reports a novel STIM1 mutation located in the Ca2+-binding EF domain causing TAM with features of Stormorken syndrome.
机译：STIM1 是一种网状 Ca2+ 传感器，由管腔和胞质结构域组成。管腔结构域中的错义突变与肾小管聚集性肌病 （TAM） 有关，而胞质突变可引起 Stormorken 综合征，这是一种多系统疾病，可将 TAM 与无脾、血小板减少症、瞳孔缩小症、鱼鳞病、身材矮小和阅读障碍联系起来。在这里，我们介绍一位 41 岁女性抱怨运动不耐受的案例。临床检查显示身材矮小、脊柱侧弯、近端肌无力伴下肢为主和眼肌麻痹。实验室检查显示低钙血症、轻度贫血和肌酸激酶 （CK） 水平升高。全身肌肉磁共振成像（MRI）显示无脾。肌肉活检与 TAM 一致。STIM1 基因分析揭示了新型 c.252T>A、p.D84E 错义突变，该突变在功能研究中被证明可诱导组成型 STIM1 聚类。本研究报道了一种位于 Ca2+ 结合 EF 结构域的新型 STIM1 突变，导致具有 Stormorken 综合征特征的 TAM。

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