Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Abstract

The findings indicate that all the affected individuals have a myopathy associated with both variants in <i>SQSTM1</i> and <i>TIA1</i>, respectively, suggesting that the two variants determine the phenotype and likely functionally interact. We speculate that the <i>TIA1</i> variant is a modifier of the <i>SQSTM1</i> mutation. We identify the combination of <i>SQSTM1</i> and <i>TIA1</i> variants as a novel genetic defect associated with myofibrillar myopathy and suggest to consider sequencing both genes in the molecular investigation of myopathy with rimmed vacuoles and myofibrillar myopathy although additional studies are needed to investigate the digenic nature of the disease.