1.
East Mediterr Health J
; 7(1-2): 229-37, 2001.
Article
in English
| MEDLINE
| ID: mdl-12596974
ABSTRACT
This study was carried out with 33 spinal muscular atrophy (SMA) patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 (5q11.2q13.3) revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought.