Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy
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DOI: 10.1080/01677063.2024.2407332
Abstract: Abstract SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the SMN1 gene. However, mutations in genes… read more here.
Keywords: gtf2h2; sma; gtf2h2 gene; smn2 ... See more keywords