Congenital myopathies: centronuclear and others

Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are spectra of the same disease affecting muscle, platelets, spleen, and skin. TAM and STRMK arise from gain-of-function mutations in STIM1 or ORAI1, both encoding key regulators of Ca2+ homeostasis, and mutations in either gene results in excessive Ca2+ entry. To elucidate the physiological consequences of STIM1 over-activation, we generated a murine model harboring the most common TAM/STRMK mutation and characterized the phenotype at the histological, ultrastructural, metabolic, physiological, and functional level.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: R. Silva-Rojas, S. Treves, J. Laporte, J. B öhm Source Type: research