[Dystrophic myotonia (a clinico-morphologic study)].
The paper contains data of a clinico-morphological study of 14 patients with dystrophic myotonia. The muscular bioptate was studied by means of electron microscopy. In the muscular filaments there were 2 types of changes. In the initial phase of the disease there were focal changes in the myofibrillar apparatus, a mild hypertrophy of the sarcotubular system and an increase of the mitochondria. These changes are similar to disturbances in Thomson's myotonia. The existence of common traits in these disorders, motor disturbances and similar morphologocal changes permit to consider that they are an expression of a myotonical phenomenon. The second type of disorders was characterized by dystrophical and atrophical changes, with distinct correlations between the severity of the disease and expressiveness of morphological changes.
D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D006801:Humans; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure*; D009210:Myofibrils / Q000648:ultrastructure*; D009223:Myotonic Dystrophy / Q000235:genetics / Q000473:pathology*; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure
Distroficheskaia miotoniia (kliniko-morfologicheskoe izuchenie)