Hot Papers Molecular Genetics Date: January 24, 1994, pp.16
J. Buxton, P. Shelbourne, J. Davies, C. Jones, T. Van Tongeren, C. Aslanidis, P. de Jong, G. Jansen, M. Anvret, B. Riley, R. Williamson, K. Johnson, "Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy," Nature, 355:547-8, 1992.
Keith Johnson (Department of Anatomy, Charing Cross and Westminster Medical School, University of London): "Myotonic dystrophy (DM) is the most common form of adult-onset muscular dystrophy and is inherited as an autosomal dominant disorder with the mutation mapping to chromosome 19. Several features of the phenotype associated with DM were extremely puzzling to geneticists prior to the discovery of the mutation that causes it, given that a single gene defect was suspected of underlying it from its Mendelian mode of inheritance. DM has a highly variable age of onset within families, usually with earlier onset in subsequent generations (a ...
