Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg

Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the <i>SMN1</i> gene. Recently developed drugs can improve the motor functions of...

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Bibliographic Details

Published in:	International Journal of Neonatal Screening
Main Authors:	Anton Kiselev, Marianna Maretina, Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il’ina, Svetlana Freund, Natalia Osinovskaya, Iskender Sultanov, Anna Egorova, Anastasia Lobenskaya, Alexander Koroteev, Irina Sosnina, Yulia Gorelik, Olesya Bespalova, Vladislav Baranov, Igor Kogan, Andrey Glotov
Format:	Article
Language:	English
Published:	MDPI AG 2024-01-01
Subjects:	spinal muscular atrophy newborn screening <i>SMN1</i> <i>SMN2</i> real-time PCR dried blood spots
Online Access:	https://www.mdpi.com/2409-515X/10/1/9