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Carrier frequency of SMN1 ‐related spinal muscular atrophy in north Indian population: The need for population based screening program

14 Oct 2020

Abstract excerpt

Chromosome 5q related Spinal muscular atrophy (SMA) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of SMN1 gene. Being the leading genetic cause of infant mortality, studies of its prevalence and incidence are necessary. Carrier testing for the common pathogenic variant for SMA is offered to the couples visiting our tertiary...

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PMID: 33051992
DOI: 10.1002/ajmg.a.61918

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