Functional class criteria identification in patients with spinal muscular atrophy 5q

Spinal muscular atrophy 5q (SMA) is one of the most common inherited neuromuscular diseases in children with an autosomal recessive type of inheritance. Homozygous deletion of exons 7 or 7–8 of the SMN1 gene encoding the motor neuron survival protein is responsible for 95 % of cases. SMA is characte...

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Main Authors: Yu. O. Papina, E. A. Melnik, E. D. Belousova, S. B. Artemyeva, A. V. Monakhova, O. A. Shidlovskaya, I. V. Shulyakova, D. V. Vlodavets
Format: Article
Language:Russian
Published: ABV-press 2024-12-01
Series:Нервно-мышечные болезни
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Online Access:https://nmb.abvpress.ru/jour/article/view/636
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