Eduardo de la Fuente-Munoz Ana Van Den Rym Blanca García-Solis Juliana Ochoa Grullón Kissy Guevara-Hoyer Miguel Fernández-Arquero Lucía Galán Dávila Jorge Matías-Guiú Silvia Sánchez-Ramón Rebeca Pérez de Diego
10.3389/fimmu.2022.917601
Front Immunol
2022 Jun 24;13:917601.
stim1 calcium signalling gain of function infection myopathy
CC BY
https://pubmed.ncbi.nlm.nih.gov/35812399/
Dyslexia / genetics Ichthyosis / genetics Myopathies, Structural, Congenital / genetics
Dyslexia / genetics Ichthyosis / genetics Myopathies, Structural, Congenital / genetics Case Reports Research Support, Non-U.S. Gov't Blood Platelet Disorders Calcium / metabolism Child Erythrocytes, Abnormal Gain of Function Mutation Humans Migraine Disorders Miosis / genetics Muscle Fatigue Mutation Neoplasm Proteins / genetics Spleen / abnormalities Stromal Interaction Molecule 1 / genetics Neoplasm Proteins STIM1 protein, human Stromal Interaction Molecule 1 Calcium Stormorken Syndrome
PMC9263075
35812399
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
2022