Abstract
The present multicenter study was carried out to look at genotype-phenotype correlations and CTG-repeat length variations between generations in patients with myotonic dystrophy (MD). We investigated 26 patients from 13 unrelated families and 55 of their relatives from 5 different neurological departments, clinically by application of the muscular disability rating score (MDRS), and the sum of symptoms score (SSS), electromyographically, and by DNA analysis. In MD patients, CTG repeat lengths ranged from 0.2 to 6.4 kb. All patients were heterozygous for the CTG repeats. The MDRS and SSS scores correlated significantly (r = 0.56, r = 0.58, p < 0.05) with the expansion size. Expansion was observed in 4 and retraction in 2 MD families. The expanded allele was transmitted in all but 2 MD families. In 2 subjects MD could be confirmed solely by DNA analysis. In one patient with clinical features of MD, the CTG repeat size was normal.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
