Molecular diagnosis of spinal muscular atrophy in Egyptians
AbstractThis 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
Shawky, R.M., Abdel Aleem, K., Rifaat, M.M. & Moustafa, A. (2001). Molecular diagnosis of spinal muscular atrophy in Egyptians. http://www.who.int/iris/handle/10665/119012
EMHJ - Eastern Mediterranean Health Journal, 7 (1-2), 229-237, 2001
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