Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease von Blone, Silvia, Small, Kersten, Aksmanovic, Veronica M.A., D'Urso, Michele, Ciccodicola, Alfredo, Merlini, Luciano, Morandi, Lucia, Kress, Wolfram, Yates, John R.W., Warren, Steve T., Toniolo, Daniela

Volltext

Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype von Yates, John R.W, Bagshaw, Jane, Aksmanovic, Veronica M.A, Coomber, Ellen, McMahon, Robert, Whittaker, Joanne L, Morrison, Patrick J, Kendrick-Jones, John, Ellis, Juliet A

Volltext