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

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

Background/Aim. Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy. The aim of this study was to determine association between the...

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Main Authors: Žarkov Marija, Stojadinović Aleksandra, Sekulić Slobodan, Barjaktarović Iva, Stojiljković Olivera, Perić Stojan, Keković Goran, Drašković Biljana, Stević Zorica
Format: Article
Language:English
Published: Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade 2015-01-01
Series:Vojnosanitetski Pregled
Subjects:
muscular atrophy
spinal
genetic diseases
inborn
chromosome aberations
Serbia
Online Access:http://www.doiserbia.nb.rs/img/doi/0042-8450/2015/0042-84501500072Z.pdf
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http://www.doiserbia.nb.rs/img/doi/0042-8450/2015/0042-84501500072Z.pdf

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