RT Journal Article
SR Electronic
T1 Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 127
OP 130
DO 10.1136/jmg.29.2.127
VO 29
IS 2
A1 L Vitiello
A1 M L Mostacciuolo
A1 S Oliviero
A1 F Schiavon
A1 L Nicoletti
A1 C Angelini
A1 G A Danieli
YR 1992
UL http://jmg.bmj.com/content/29/2/127.abstract
AB Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.