DES and myofibrillar myopathy 1: In the OMIM database, Pathogenic variants in the desmin gene are associated with three clinically defined entities: (1) Myofibrillar Myopathy 1, characterized by progressive limb-girdle weakness, desmin-positive cytoplasmic aggregates on histopathology, and cardiac conduction (2); (2) Dilated Cardiomyopathy 1I, predominantly manifesting as left ventricular dilation, impaired contraction, and malignant ventricular arrhythmias (3); and (3) Neurogenic Scapuloperoneal Syndrome, Kaeser Type, featuring scapuloperoneal distribution of weakness and atrophy (4).