Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

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, thromboc...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2017, Vol.27 (1), p.78-82
Main Authors: Noury, Jean-Baptiste, Bohm, Johann, Peche, Georges, Guyant-Marechal, Lucie, Bedat-Millet, Anne-Laure, Chiche, Léa, Carlier, Robert-Yves, Malfatti, Edoardo, Romero, Norma, Stojkovic, Tanya
Format: Article
Language:English
Subjects:
Biochemistry, Molecular Biology
Life Sciences
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Summary: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.
ISSN:0960-8966
DOI:10.1016/j.nmd.2016.10.006