Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy
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DOI: 10.3389/fcell.2021.635063
Abstract: Tubular Aggregate Myopathy (TAM) is a hereditary ultra-rare muscle disorder characterized by muscle weakness and cramps or myasthenic features. Biopsies from TAM patients show the presence of tubular aggregates originated from sarcoplasmic reticulum due to… read more here.
Keywords: aggregate myopathy; mutation; muscle; stim1 l96v ... See more keywords