Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients
نویسندگان
چکیده
منابع مشابه
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.
The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kinase gene. A comparison of these sequences with each other and with known cDNA ...
متن کاملCis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
The mutation causing myotonic dystrophy (DM) has been identified as a CTG expansion in the 3'-untranslated region (3'-UTR) of the DM protein kinase gene ( DMPK ), but the mechanism(s) of pathogenesis remain unknown. Studies using DM patient materials have often produced confusing results. Therefore, to study the effects of the DM mutation in a controlled environment, we have established a cell ...
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It is known that cardiovascular complications plays important roles in the development of diabetes mellitus (DM) and platelet dysfunction is one of the key reasons which led to microangiopathy. This study was designed to investigate the mitochondria function changes of platelet in DM rats and DM patients. The results showed that the platelets viability, platelet adenosine triphosphate (ATP) con...
متن کاملRFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM)
SOURCE/DESCRIPTION: Probe LDR152-a 1.68 Kb single copy Hind III fragment isolated from a chromosome 19 bivariate flow sorted enriched Charon 21A library and subcloned into SP64. CHROMOSOMAL LOCALISATION: 1 9cent-1 9q 1 • 3 by somatic cell hybrid and linkage data. POLYMORPHISMS: Recognises two, two allele polymorphisms when U3ed to probe human genomic DNA digested with P3t I and Msp I.
متن کاملCongenital myotonic dystrophy in Britain
Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirme...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200490