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Article

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.

Biochemical genetics - 1 Dec 2024

Abd El Mutaleb Abdel Nasser H, Ibrahim Fawziya A R, Megahed Fayed A K, Atta Ahmed, Ali Bahy A, Omar Tarek E I, Rashad Mona M

Abstract excerpt

Spinal muscular atrophy (SMA) is one of the most prevalent autosomal recessive illnesses with type I being the most severe type. Genomic alterations including survival motor neuron (SMN) copy number as well as deletions in SMN and Neuronal Apoptosis Inhibitory Protein (NAIP) are greatly implicated in the emergence of SMA. However, the association of such alterations with the severity of the disease is yet to be...

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Identifiers

PMID: 38388850
DOI: 10.1007/s10528-023-10657-6
PMCID: PMC11604826

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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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