Stormorken syndrome caused by STIM1 mutation: A case report and literature review

The aim of the present case study was to identify the genetic cause of a patient with a clinical presentation of tubular aggregate myopathy (TAM)/Stormorken syndrome (STRMK) and review the published clinical data of patients with TAM/STRMK. A child with thrombocytopenia and hyperCKemia at the Childr...

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Detalles Bibliográficos
Autores principales: Sun, Wenqiang, Hu, Jinhui, Li, Mengzhao, Huo, Jie, Zhu, Xueping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829216/
https://www.ncbi.nlm.nih.gov/pubmed/36698909
http://dx.doi.org/10.3892/mi.2022.54

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829216/
https://www.ncbi.nlm.nih.gov/pubmed/36698909
http://dx.doi.org/10.3892/mi.2022.54

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