|Title:||Molecular diagnosis of spinal muscular atrophy in Egyptians|
Abdel Aleem, K.
|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|
|Keywords:||Age of Onset|
Chromosomes, Human, Pair 5
DNA Mutational Analysis
|Subject:||Muscular Atrophy, Spinal|
|Appears in Collections:||EMRO Journal Articles (EMHJ)|
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