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Myofibrillary myopathies are defined by a histologic signature of myofibrillar degradation and abnormal protein aggregates, and distal myopathies by characteristically affected distal muscles, but they share overlapping clinical, genetic, and histopathologic features. To characterize the clinical and genetic spectrum of these disorders, researchers retrospectively analyzed data from 361 patients in an Italian myology network who had myofibrillary myopathy or distal myopathy or matched criteria for both (19%).
Causative genetic variants were identified in 63% of patients. Pathogenic variants in three genes (DES, MYOT, DNAJB6) accounted for about half of the myofibrillar myopathies. The most common variants in distal myopathies were in GNE and…