A NEW FAMILIAL CONGENITAL MYOPATHY IN CHILDREN WITH DESMIN AND DYSTROPHIN REACTING PLAQUES

In 5 children with a progressive congenital myopathy representing 3 di fferent families, unusual histological, immunohistochemical and ultras tructural changes in skeletal muscle have been found. Histologically, this myopathy was characterized by the presence of fine hyaline plaque s devoid of oxidative as well as ATPase enzyme activities. At the ultr astructural level plaques were composed of helical filaments and amorp hous dense material. Helical filament storage corresponded to strong d esmin as well as ubiquitin immunoreactivity. In addition they were als o dystrophin positive. The exclusive appearance of desmin, ubiquitin a nd dystrophin positive plaques in muscle specimens from 5 children emp hasize the uniqueness of these plaques as well as this special form of a congenital myopathy.