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

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 mut...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263075/
https://www.ncbi.nlm.nih.gov/pubmed/35812399
http://dx.doi.org/10.3389/fimmu.2022.917601

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263075/
https://www.ncbi.nlm.nih.gov/pubmed/35812399
http://dx.doi.org/10.3389/fimmu.2022.917601

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