Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
C Rosenberg, L Navajas, DF Vagenas, E Bakker… - Neuromuscular …, 1998 - Elsevier
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 carrier females is complicated by the presence of a normal
gene copy on the second X-chromosome. We have analyzed the boundaries of 570
deletions and 34 duplications in the dystrophin gene identified in the São Paulo and Leiden …
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 carrier females is complicated by the presence of a normal
gene copy on the second X-chromosome. We have analyzed the boundaries of 570
deletions and 34 duplications in the dystrophin gene identified in the São Paulo and Leiden …