Myotonic Dystrophy Mutation: An Unstable CTG Repeat in the 3′ Untranslated Region of the Gene

Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes that m...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 1992-03, Vol.255 (5049), p.1253-1255
Hauptverfasser:	Mahadevan, Mani, Tsilfidis, Catherine, Sabourin, Luc, Shutler, Gary, Amemiya, Chris, Jansen, Gert, Neville, Catherine, Narang, Monica, Barceló, Juana, O'Hoy, Kim, Leblond, Suzanne, Earle-Macdonald, Jane, De Jong, Pieter J., Wieringa, Bé, Korneluk, Robert G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Analysis Anatomy Base Sequence Biological and medical sciences Blotting, Southern Chromosomes, Human, Pair 19 Codon Complementary DNA Deoxyribonuclease EcoRI Diseases of striated muscles. Neuromuscular diseases DNA DNA - chemistry DNA probes Exons Gels genes Genetic aspects Genetic disorders Genetic mutation Genetics Genomics Humans Medical sciences Molecular Sequence Data Muscular dystrophy Mutation Mutation (Biology) Myotonic dystrophy Myotonic Dystrophy - genetics Neurology Nucleic Acid Hybridization Nucleotide sequence Polymerase Chain Reaction Polymorphism, Genetic Repetitive Sequences, Nucleic Acid restriction fragment length polymorphism Restriction Mapping
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