Two new rare pathogenic variants in DES gene causing distal myofibrillar myopathy

Abstract

Myofibrilar myopathy is associated with a wide spectrum of clinical phenotypes, affecting individuals between the age of 25-45 year of age with proximal, distal or generalized weakness. In addition to the skeletal muscle being involved, the heart can be affected and congestive heart failure and arrhythmias can be the predominant feature of the disease. Here, we present 2 new variants in DES causing desmin-myofibrillary myopathies. These variants are not present in population databases and they were not reported in the literature. The discovery of new pathogenic variants such as these ones, help further understanding of this disease and facilitate diagnosis in future patients.