Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
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DOI: 10.1212/nxg.0000000000000530
Abstract: Objective 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… read more here.
Keywords: number patients; number; copy number; smn2 copy ... See more keywords
Discrepancy in redetermination of SMN2 copy numbers in children with SMA
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DOI: 10.1212/wnl.0000000000007836
Abstract: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe… read more here.
Keywords: discrepancy redetermination; smn protein; copy; smn2 copy ... See more keywords
Comment: Accuracy and importance of SMN2 copy number
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DOI: 10.1212/wnl.0000000000007839
Abstract: In this article, Schorling et al.1 report SMN2 copy number in 20 patients with spinal muscular atrophy (SMA) using multiplex ligation-dependent probe amplification (MLPA) methodology and found discrepant results in 9 patients. While it has… read more here.
Keywords: smn2 copy; copy number; comment accuracy;
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
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DOI: 10.1371/journal.pone.0276756
Abstract: Spinal muscular atrophy (SMA) is a progressive recessive genetic disease. Early identification is critical for achieving maximal treatment benefit. Survival motor neuron (SMN) 2 copy number may be a needed descriptor of disease severity than… read more here.
Keywords: knowledge; smn2 copy; copy number; copy ... See more keywords