NEW FAMILIAL MUSCULAR DISORDER DEMONSTRATED BY INTRA-SARCOPLASMIC - ACCUMULATION OF A GRANULO-FILAMENTOUS MATERIAL WHICH IS DENSE ON ELECTRON-MICROSCOPY

  • 1 January 1978
    • journal article
    • research article
    • Vol. 134  (6-7) , 411-425
Abstract
A family in which several members presented an involvement of skeletal and velo-pharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances and lens opacities is reported. The mode of transmission is autosomal dominant. The EMG [electromyogramy] showed neither spontaneous activity nor myotonic discharges. In 2 patients, muscle biopsies showed identical changes. Light microscopy showed that the intermyofibrillar network was rubbed out in numerous type I fibers; this occurred with splitting of the fibers. EM revealed an intrasarcoplasmic accumulation of an electron-dense granulo-filamentous material: in some areas it formed a mesh of threads around the myofibrils and in others it was disposed regularly in small stacks facing the Z lines. Continuity or structural stimilarity of this material and the Z lines was not observed; its relationship with the dense strips of leptofibrils is suggested.

This publication has 1 reference indexed in Scilit: