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article · Molecular Genetics and Metabolism Reports

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

Abstract

This study demonstrated an inverse correlation between <i>SMN2</i> and <i>NAIP</i> copy numbers and SMA severity. Combined <i>SMN1</i>-<i>SMN2</i>-<i>NAIP</i> genotypes provided stronger predictive insights on disease severity than individual gene copy number. Implementing CNV analysis of these genes in Morocco could enhance SMA severity prediction and support genetic counseling.

Research topics

  • Neurogenetic and Muscular Disorders Research
  • Cardiomyopathy and Myosin Studies
  • Genetic Neurodegenerative Diseases

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DOI: 10.1016/j.ymgmr.2026.101299

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