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Title: Molecular diagnosis of spinal muscular atrophy in Egyptians
Authors: Shawky, R.M.
Abdel Aleem, K.
Rifaat, M.M.
Moustafa, A.
Issue Date: 2001
Language: English
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
Description: 229-237
Keywords: Age of Onset
Case-Control Studies
Chromosomes, Human, Pair 5
DNA Mutational Analysis
Disease Progression
Gene Deletion
Heterozygote
Homozygote
Phenotype
Subject: Muscular Atrophy, Spinal
URI: http://www.who.int/iris/handle/10665/119012
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/0701_2/2001_7_1-2_229_237.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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