Open AccessAssociation 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
Author(s) -
Marija Žarkov,
Aleksandra Stojadinović,
Slobodan Sekulić,
Iva Barjaktarović,
Olivera Stojiljković,
Stojan Perić,
G. Keković,
Biljana Drašković,
Zorica Stević
Publication year - 2015
Publication title -
vojnosanitetski pregled
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.123
H-Index - 19
eISSN - 2406-0720
pISSN - 0042-8450
DOI - 10.2298/vsp140328072z
Subject(s) - smn1 , spinal muscular atrophy , exon , gene , copy number variation , genetics , gene dosage , medicine , gene duplication , biology , gene expression , genome
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 SMN2 gene copy number and disease phenotype in Serbian patients with SMA with homozygous deletion of exon 7 of the SMN1 gene.
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