[Myotonic dystrophy].
Clinicogenealogical examination of 63 patients with myotonic dystrophy as well as the electromyographic and muscular biopsy findings showed this disorder to represent a distinctive clinical form rather than a variant of Thomsen's myotonia. Considerable clinical inter- and intrafamilial polymorphism of myotonic dystrophy was revealed. The characteristics of the disease among the population of the Kuibyshev region are provided, including the description of its specific manifestations in Ukrainian and Russian families. Incomplete penetration of the myotonic dystrophy gene was elicited, with 83% in the Ukrainian, and 91% in the Russian families.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002648:Child; D004576:Electromyography; D005006:Ethnicity; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D012426:Russia; D014455:Ukraine / Q000208:ethnology
Miotonicheskaia distrofiia.