Ontology highlight
ABSTRACT:
SUBMITTER: Rekik I
PROVIDER: S-EPMC3644783 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Annals of Indian Academy of Neurology 20130101 1
<h4>Background</h4>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord, resulting in progressive muscle weakness and atrophy.<h4>Aims</h4>The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients.<h4>Materials and methods</h4>Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 a ...[more]