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Article

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

1 Sept 2020

Abstract excerpt

Objective The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in SMN1 and with the SMN2 copy number. Methods Four hundred fifty Brazilian patients with SMA were...

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Identifiers

PMID: 33062891
DOI: 10.1212/nxg.0000000000000505

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