Mutation Spectrum Leading To An Attenuated Phenotype In Dystrophinopathies
Sylvie Tuffery-Giraud (1), Céline Saquet (1), Delphine Thorel (1), Antoine Disset (1), François Rivier (2), Sue Malcolm (3) and Mireille Claustres (1)
(1) Laboratoire de Génétique Moleculaire et Chromosomique, CHU de Montpellier, Montpellier, France
(2) Service de Neuropédiatrie, Hôpital Gui de Chauliac, CHU de Montpellier, Montpellier, France
(3) London IDEAS Genetics Knowledge Park, Institute of Child Health, London, UK
In an article published in the European Journal of Human Genetics (Vol.13, pp. 1254–1260), the authors have extensively characterized the mRNA changes associated with five novel point mutations giving rise to a Becker muscular dystrophy (BMD) phenotype, which confirm that Becker arises largely due to alterations in splicing. The results emphasize that mRNA analysis is important in defining Becker mutations and will be of value in assessing various gene therapy strategies.
Dr S Tuffery-Giraud, Laboratoire de Génétique Moléculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), 641 Avenue du Doyen G. Giraud, 34093 Montpellier cedex 5, France.
Abstract available online.
(C) European Journal of Human Genetics.
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