ArticleAnnals of Indian Academy of Neurology2013
Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.
Article in Annals of Indian Academy of Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- First combined analysis ofMolecular genetics and metabolism reports · 2026Article
- Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.BMC biotechnology · 2025Article
- Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.Journal of molecular neuroscience : MN · 2021Article
- Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.Iranian journal of child neurology · 2016Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord, resulting in progressive muscle weakness and atrophy.
aimsThe purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients. MATERIALS AND
methodsPolymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene.
resultsFifteen (45.4%) out of 33 SMA patients were homozygously deleted for exons 7 and/or 8 of SMN1. Homozygous deletion of NAIP gene was observed in 20% (3 / 15) of patients.
conclusionsThe molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis, and pre-implantation genetic diagnosis of SMA.
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