Géndeletiók molekuláris diagnosztikai vizsgálata Duchenne- és Becker-izomdystrophiában.

E. Endreffy, A. László, M. Kálmán, T. Krenács, I. Raskó

Research output: Review article


Deletion analysis of the dystrophin gene (Xp21) was carried out by examinations of the most frequently deleted 18 exons (3., 4., 6., 8., 12., 13., 17., 19., 43., 44., 45., 47., 48., 49., 50., 51., 52. and 60. exon) and the muscle specific promoter in 42 Duchenne and Becker muscular dystrophy (DMD/BMD) affected patients with multiple polymerase chain reaction (PCR). 22 (52%) of 42 patients were found to have one or more exon deletions. 9% BMD patients (milder allelic form) were found in the deletion group versus 35% in the non deletion group. This method seems to be useful for prenatal genetic diagnosis in the family of deletion patients.

Translated title of the contributionGene deletion analysis in molecular diagnosis of Duchenne-Becker muscular dystrophy
Original languageHungarian
Pages (from-to)399-403
Number of pages5
JournalOrvosi hetilap
Issue number8
Publication statusPublished - febr. 20 1994

ASJC Scopus subject areas

  • Medicine(all)

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