Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ecto...

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Principais autores:	Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi
格式:	Artigo
语言:	Inglês
出版:	KeAi Communications Co., Ltd. 2024-12-01
丛编:	Global Medical Genetics
主题:	ORAI-1 ophthalmoparesis congenital myopathy congenital fiber-type disproportion
在线阅读:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1790245
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