Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant (MRUPAV)

Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant, also known as vacuolar neuromyopathy, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and muscular dystrophy, limb-girdle, autosomal dominant 1. An important gene associated with Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant is PLIN4 (Perilipin 4). Affiliated tissues include skeletal muscle, and related phenotypes are dysphonia and dysphagia