Tubular aggregate myopathies are very rare neuromuscular diseases characterized by histological lesions easily recognizable by optical microscopy. They are not all of genetic origin. Exome studies performed in 33 patients in whom this diagnosis had been made revealed:
- to formally prove a genetic origin in two thirds of the cases studied,
- to identify pathological or probably pathogenic variants in the STIM1, ORAI1, PGAM2, SCN4A, CASQ1 and ALG14 genes.
Most of these genes are involved, directly or indirectly, in intracellular calcium homeostasis and in glycosylation.