Ontology highlight
ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC6952307 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Wang Youjin Y Best Ana A Fernández-Torrón Roberto R Alsaggaf Rotana R Garcia-Puga Mikel M Dagnall Casey L CL Hicks Belynda B Thompson Mone't M Matheu Fernandez Ander A Zulaica Ijurco Miren M Greene Mark H MH Lopez de Munain Adolfo A Gadalla Shahinaz M SM
Annals of clinical and translational neurology 20191205 1
Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an accelerated RTL attrition in DM1 (discovery cohort: T/S change/year = -0.013 in DM1 vs. -0.005 in c ...[more]