Myotonic Dystrophy Type 1 Diagnostics: A Changing Trend
نویسنده
چکیده
Myotonic dystrophy type 1 or Steinert’s disease is the most common form of adult muscular dystrophy affecting multiple systems with a wide spectrum of phenotypes. This paper focuses on the different methods to diagnose myotonic dystrophy type 1 that have been used over the years and the various modifications that have been made to the previous diagnostics. The different diagnostic assays and their different advantages and disadvantages are discussed.
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
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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Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not...
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