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Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

11 Nov 2020

Abstract excerpt

Assessment of SMN2 copy number in patients with spinal muscular atrophy (SMA) is essential to establish careful genotype-phenotype correlations and predict disease evolution. This issue is becoming crucial in the present scenario of therapeutic advances with the perspective of SMA neonatal screening and early diagnosis to initiate treatment, as this value is critical to stratify patients for clinical trials and...

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PMID: 33324756
DOI: 10.1212/nxg.0000000000000530

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Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophyPMID 33324756Read ↗

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.Semantic proximity Read ↗

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Semantic proximity Read ↗

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Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.Semantic proximity Read ↗

Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA.Semantic proximity Read ↗

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.Semantic proximity Read ↗

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in IranSemantic proximity Read ↗

Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.Semantic proximity Read ↗

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

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