NIH R01 · 2025
Pathophysiology of Tubular Aggregate Myopathy
Tubular aggregate myopathy (TAM) is an inherited muscle disease associated with progressive weakness, cramps, myalgia, and exercise intolerance that primarily affects proximal muscles of the lower limbs. The extensive presence of tubular aggregates (TAs), arrays of ordered and densely packed sarcoplasmic reticulum (SR) tubes, in muscle biopsies from TAM patients represents a key histopathological hallmark of this disease. Recent studies have linked TAM to gain-of-function mutations in the Stim1, Orai1, and Casq1 genes. The proteins encoded by these genes coordinate store operated Ca2+ entry (SOCE), a mechanism that enables muscle to replenish SR Ca2+ stores needed to maintain force…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.