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Point mutations in Czech DMD/BMD patients and their phenotypic outcome

Basic information
Original title:Point mutations in Czech DMD/BMD patients and their phenotypic outcome
Authors:Jana Sedláčková, Petr Vondráček, Markéta Hermanová, Josef Zámečník, Zuzana Hrubá, Jana Haberlová, Josef Kraus, Taťana Maříková, Petra Hedvičáková, Stanislav Voháňka, Lenka Fajkusová
Further information
Citation:SEDLÁČKOVÁ, Jana - VONDRÁČEK, Petr - HERMANOVÁ, Markéta - ZÁMEČNÍK, Josef - HRUBÁ, Zuzana - HABERLOVÁ, Jana - KRAUS, Josef - MAŘÍKOVÁ, Taťana - HEDVIČÁKOVÁ, Petra - VOHÁŇKA, Stanislav - FAJKUSOVÁ, Lenka. Point mutations in Czech DMD/BMD patients and their phenotypic outcome. Neuromuscular Disorders, USA, Pergamon-Elsevier Science Ltd, USA. ISSN 0960-8966, 2009, vol. 19, no. 11, pp. 749-753.
Original language:English
Field:Genetics and molecular biology
Type:Article in Periodical
Keywords:Duchene muscular dystrophy; DMD; BMD

Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene. Further, using quantitative analysis of DMD mRNA carrying various mutated alleles, we examine levels of mRNA degradation due to nonsense mediated mRNA decay. The quantity of dystrophin mRNA is different depending on the presence of a mutation leading to a premature termination codon, and position of the analysed mRNA region with respect to its 5 end or 3 end.

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