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Article

Spinal muscular atrophy: clinical spectrum and genetic mutations in Pakistani children.

Neurology India - 1 Jan 2000

Ibrahim Shahnaz, Moatter Tariq, Saleem Ali Faisal

Abstract excerpt

BACKGROUND: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22824686
DOI: 10.4103/0028-3886.98514

Genes

NAIP
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22824686-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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