Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Abstract

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 ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis.

Keywords

• ORAI-1
• ophthalmoparesis
• congenital myopathy
• congenital fiber-type disproportion