Glucose intolerance in myotonic dystrophy type 1
نویسندگان
چکیده
منابع مشابه
Myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
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Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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OBJECTIVE To describe and compare life habits between individuals with adult and mild phenotypes of myotonic dystrophy; identify life habit dimensions in which accomplishment is compromised; and describe satisfaction related to life habits. DESIGN Cross-sectional study. SUBJECTS A random sample of 200 subjects with myotonic dystrophy (42 mild phenotypes, 158 adult phenotypes). MEASUREMENT...
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Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disea...
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The myotonic dystrophies are multisystem disorders characterized by progressive skeletal muscle weakness, myotonia, cataracts, endocrine abnormalities, cognitive impairment, and cardiomyopathy. Myotonic dystrophy type 1 (DM1) is the most common of the myotonic dystrophies. The cardiac-specific phenotypes of DM1 include progressive atrioventricular conduction delay, atrial and ventricular arrhyt...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2012
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.52.1259