A father and his two sons presented with slowly progressive muscular weakness, contractures of the spine, elbows and ankles, and cardiac conduction disturbances in the father. Clinical and histological findings are discussed in relation to the hitherto reported cases of autosomal dominant variant of the Emery‐Dreifuss syndrome and the distinction from the rigid spine syndrome.
A man of 44 years suffering from an exercise-induced neuromuscular disease with mitochondrial abnormalities and rimmed vacuoles is reported. The mitochondrial abnormalities and rimmed vacuoles (autophagic vacuoles) are interpreted as sequential changes of the same pathogenetic process depending on the degree of energy deficiency.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.