title: [Thomsen's myotonia (clinico-morphologic study)].
abstract: The report deals with the results of a clinico-morphological study of 14 patients with Thomsen's myotonia. The muscles obtained during biopsy were studied by electron microscopy. It was established that in patients with a mild and moderate degree of the disease the muscle fibres did not differ from normal ones. Only in patients with severe forms of the disease was it possible to detect focal changes of the myofebrillar apparatus, a moderate hypertrophy of the sacrotubular system and an enlargement in the size of the mitochondria. These changes as it is assumed, are morphological expression of the myotonic phenomenon and reflect the changed functional relationships in the link Ca-troponin-actomyosine complex.
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure*; D009210:Myofibrils / Q000648:ultrastructure; D009224:Myotonia Congenita / Q000473:pathology*; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure
vernacular_title: Miotoniia Tomsena (kliniko-morfologicheskoe izuchenie)