title: [CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].
abstract: A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination. A correlation between the most distinct clinical symptoms and CTG-repeat number has been studied. A CTG-repeat expansion in generations was compared to that in sib pairs with myotonic dystrophy. In 17.6% of the cases, CTG-repeat number decreased in the following generations and in 11.7% it did not change, the percentages being higher than those described elsewhere. In general, anticipation phenomenon was confirmed for CTG-repeat in myotonin proteinkinase gene.
authors.forename: I M
authors.initials: IM
authors.lastname: Khidiiatova
authors.forename: R I
authors.initials: RI
authors.lastname: Fatkhlislamova
authors.forename: R V
authors.initials: RV
authors.lastname: magzhanov
authors.forename: S N
authors.initials: SN
authors.lastname: Popova
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000293:Adolescent; D000328:Adult; D001486:Bashkiria; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000453:epidemiology* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C585517:DMPK protein, human; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases