The mutation specific for myotonic dystrophy (DM) is an unstable expanded CTG repeat located in the 3'-untranslated region of the myotonin protein kinase gene. Expansion of the CTG repeat shows a positive correlation with the severity of the disease and increases in successive generations of DM pati
β¦ LIBER β¦
A new non-radioactive method for the screening and prenatal diagnosis of myotonic dystrophy patients
β Scribed by Raffaella Brugnoni; Lucia Morandi; Bruno Brambati; Vincenza Briscioli; Ferdinando Cornelio; R. Mantegazza
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 233 KB
- Volume
- 245
- Category
- Article
- ISSN
- 0340-5354
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We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon