PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients

• Auteurs principaux: Pita Rodríguez M (Auteur), Zaldívar Vaillant T (Auteur), Zayas Guillot M (Auteur), Alvarez González MA (Auteur)
• Format: Livre
• Publié: Journal of Neurology, Neurological Science and Disorders - Peertechz Publications, 2017-09-15.
• Sujets: Short Communication
• Accès en ligne: Connect to this object online.

<p>Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38-50 [1]. Previous reports describe genotype and frequency differences a...