Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report

Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome by laboratory tests, muscle biopsies, and genetic...

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Detalles Bibliográficos
Autores principales: Jiang, Li-Jun, Zhao, Xue, Dou, Zhi-Yan, Su, Qing-Xiao, Rong, Zan-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366773/
https://www.ncbi.nlm.nih.gov/pubmed/34408715
http://dx.doi.org/10.3389/fneur.2021.522513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366773/
https://www.ncbi.nlm.nih.gov/pubmed/34408715
http://dx.doi.org/10.3389/fneur.2021.522513

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