[Mitochondrial changes of the skeletal muscle in the peroneal muscular atrophy (Charcot-Marie-Tooth disease). Histological and electron microscopic studies (author's transl)]

Abstract

This report deals with two sisters (38 and 44 years old) suffering from Charcot-Marie-Tooth disease. Muscle biopsies were taken from the deltoid and the rectus femoris. In one of the cases a sural nerve biopsy was also made. Light microscopy showed only slight myopathic changes. The histochemical reactions disclosed an increase in lipid deposition and in NADH-TR activity of type 1 fibres. Electron microscopy showed abnormal mitochondrial aggregates, which were surrounded inconstantly by glycogen deposits, especially in subsarcolemmal space. Many of the atypical mitochondria showed paracristalline inclusions within the cristae. The significance of these findings is discussed and compared with similar reports in the literature.