Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated region on chromosome 5q13 that contains Alu elements and is...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Clinical Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336725/
https://ncbi.nlm.nih.gov/pubmed/32337852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1238
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