کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5632412 1406535 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
چکیده انگلیسی


- Our patient had tubular aggregate myopathy and features of Stormorken syndrome.
- Whole-body muscle magnetic resonance imaging revealed asplenia.
- STIM1 analysis disclosed the novel c.252T>A, p.D84E missense mutation.
- First STIM1 mutation in the Ca2+-binding EF domain with asplenia.

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 27, Issue 1, January 2017, Pages 78-82
نویسندگان
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