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Article

Molecular diagnosis of spinal muscular atrophy in Egyptians.

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit - 1 Jan 2000

Shawky R M, Abd el-Aleem K, Rifaat M M, Moustafa A

Abstract excerpt

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...

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PMID: 12596974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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