Article
[Detection of rare mutations in the dystrophin gene].
Medycyna wieku rozwojowego - 1 Jan 2000
Zimowski Janusz G, Holding Mariola, Fidziańska Elzbieta, Fidziańska Anna, Ryniewicz Barbara, Dobosz Irena, Hausmanowa-Petrusewicz Irena, Kostera-Pruszczyk Anna, Zdzienicka Elzbieta, Kubalska Jolanta, Andrzejczyk Anna, Zaremba Jacek
Abstract excerpt
INTRODUCTION: Duchenne/Becker muscular dystrophies (DMD/BMD) are allelic X-linked, recessive proximal muscle disorders, caused by mutations in the dystrophin gene located in Xp21. DMD occurs with the incidence 1:3500, BMD with the incidence of 1:18,500 new-born males. Approximately about 60% of mutations in the dystrophin gene are deletions, 10%--duplications and 30%--point mutations. AIM: The aim of the study...
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