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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.

Frontiers in immunology - 1 Jan 2022

de la Fuente-Munoz Eduardo, Van Den Rym Ana, García-Solis Blanca, Ochoa Grullón Juliana, Guevara-Hoyer Kissy, Fernández-Arquero Miguel, Galán Dávila Lucía, Matías-Guiú Jorge, Sánchez-Ramón Silvia, Pérez de Diego Rebeca

Abstract excerpt

Gain-of-function (GOF) mutations in STIM1 are responsible for tubular aggregate myopathy and Stormorken syndrome (TAM/STRMK), a clinically overlapping multisystemic disease characterised by muscle weakness, miosis, thrombocytopaenia, hyposplenism, ichthyosis, dyslexia, and short stature. Several mutations have been reported as responsible for the disease. Herein, we describe a patient with TAM/STRMK due to a...

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PMID: 35812399
DOI: 10.3389/fimmu.2022.917601
PMCID: PMC9263075

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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.PMID 35812399Read ↗

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