Τίτλος:
DELETION PATTERNS OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES IN GREECE
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
FLORENTIN, L
MAVROU, A
KEKOU, K
METAXOTOU, C
Περιοδικό:
JOURNAL OF MEDICAL GENETICS
Εκδότης:
BMJ Publishing Group
