Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients

Abstract Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with autosomal recessive inheritance. Homozygous loss of exon 7 of the Survival of motor neuron 1 ( SMN1 ) gene is the main cause of SMA. Although progressive muscle weakness and atrophy are common symptoms, disease severity varie...

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Veröffentlicht in:	European journal of medical genetics 2015-12, Vol.58 (12), p.654-658
Hauptverfasser:	Bora-Tatar, Gamze, Yesbek-Kaymaz, Ayse, Bekircan-Kurt, Can Ebru, Erdem-Özdamar, Sevim, Erdem-Yurter, Hayat
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Consanguinity DNA Copy Number Variations Exons Female Gene Deletion Homozygote Humans Male Medical Education NAIP gene Neuronal Apoptosis-Inhibitory Protein - genetics SMN1 gene SMN2 gene copy number Spinal Muscular Atrophies of Childhood - diagnosis Spinal Muscular Atrophies of Childhood - genetics Spinal muscular atrophy type III Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - genetics Turkey Young Adult
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