Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

Two-thirds of patients affected by Duchenne or Becker muscular dystrophy (DMD/BMD) carry large intra-genic deletions in the dystrophin gene. In males, the deletions can be efficiently detected using multiplex polymerase chain reaction (PCR) and Southern blotting. In contrast, deletion detection in c...

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Veröffentlicht in:	Neuromuscular disorders : NMD 1998-10, Vol.8 (7), p.447-452
Hauptverfasser:	Rosenberg, C., Navajas, L., Vagenas, D.F., Bakker, E., Vainzof, M., Passos-Bueno, M.R., Takata, R.I., Van Ommen, G.J.B., Zatz, M., Den Dunnen, J.T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Deletions Diagnosis DNA Probes Duchenne muscular dystrophy (DMD) Dystrophin - genetics Exons - genetics Fluorescence in situ hybridization (FISH) Gene Deletion Genes - genetics Heterozygote Humans In Situ Hybridization, Fluorescence Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics
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