Article

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular Atrophy

2022-03-15

Abstract excerpt

<title>Abstract</title> <p>SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the <italic>SMN1</italic> gene. However, mutations in other genes in the SMA region may contribute to the disease. These include <italic>SMN2</italic>, which is a pseudogene of <italic>SMN1</italic>, as well as <itali...

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Literature Corpus work: 23d7482f-93ff-5e29-9fe3-fc3a03edc91c
DOI: 10.21203/rs.3.rs-1442537/v1

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Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular AtrophyDOI 10.21203/rs.3.rs-1442537/v1Read

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