Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
AUTOR(ES)
Florentin, L
RESUMO
We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of patients and were mainly clustered in two areas of the gene, one in the 3' and one in the 5' end of the gene (exons 3-19 and 44-53). Almost 17% of deletion breakpoints lay in intron 44 while 29% of deletions have a breakpoint in intron 50. Thus the distribution of deletions in our DMD/BMD patients differs from that previously reported. Furthermore a 1:4.35 proximal:distal ratio was observed in familial cases and a 1:2.45 ratio in isolated ones.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050179Documentos Relacionados
- Linkage studies in Duchenne and Becker muscular dystrophies.
- Partial gene duplication in Duchenne and Becker muscular dystrophies.
- Medical genetics: advances in brief: Rapid direct diagnosis of deletion carriers of Duchenne and Becker muscular dystrophies
- Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.
- Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks