Key result
Two new pathogenic variants in the DES gene were identified as causing distal myofibrillar myopathy.
Why the study?
Identifying new pathogenic DES variants helps further the understanding of desmin-myofibrillary myopathies and facilitates diagnosis.
Case Report
The discovery of two novel pathogenic variants in the DES gene expands the genetic spectrum of desmin-myofibrillary myopathies, which can present with congestive heart failure and arrhythmias.
Novel DES variants expand desminopathy spectrum with cardiac involvement; leaves open pathogenicity and clinical utility pending validation.
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.
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Carbunar et al. (2023) conducted a case report in Distal myofibrillar myopathy. DES gene variants was evaluated. Two new pathogenic variants in the DES gene were identified as causing distal myofibrillar myopathy.
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