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Article

Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan.

Journal of neuromuscular diseases - 1 Mar 2025

Aziz Bisma, Arif Ahmed A, Kazi Kulsum, Kirmani Salman, Ansar Zeeshan, Nasir Asghar, Ibrahim Shahnaz Hamid, Ahmed Khairunnisa Mukhtiar, Hasan Zahra, Khan Sara

Abstract excerpt

BackgroundSpinal Muscular Atrophy (SMA) leads to motor neuron loss, with progressive muscle weakness and wasting. Nationwide registries for neuromuscular diseases are pivotal for assessing epidemiology, preparing for clinical trials, and for adopting standardized management guidelines.ObjectivesThis paper aims to present data gathered during the establishment of Pakistan's inaugural registry for genetically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39973405
DOI: 10.1177/22143602241301657
PMCID: PMC13142858

Genes

SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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