par Gerard, Jean-Marie ;Retif, Jean ;Telerman Toppet, Nicole
Référence Acta neurologica belgica, 74, 5, page (284-296)
Publication Publié, 1974
Article révisé par les pairs
Résumé : Histologic, histochemical and ultrastructural studies were performed on a muscle biopsy from a 45 yr old woman who suffered from sporadic complete external ophthalmoplegia and proximal limb weakness. She had a 30 yr history of ptosis and progressive ophthalmoplegia. Additional features included elevated cerebrospinal fluid protein level, cardiac abnormality and retinitis pigmentosa. Histochemical study showed scattered muscle fibers containing accumulations of sarcoplasmic material mainly in the subsarcolumnal region in some type I fibers, and a marked reduction of type II fibers. Many aggregates of pathological mitochondria were observed by electron microscopy. Terminal motor innervation and motor end plates were studied either by vital methylene blue staining and by electron microscopy. No significant changes were observed.