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Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1

✍ Scribed by Ganji, H.; Nouri, N.; Salehi, M.; Aryani, O.; Houshmand, M.; Basiri, K.; Fazel-Najafabadi, E.; Sedghi, M.

Book ID
125453033
Publisher
SAGE Publications
Year
2014
Tongue
English
Weight
332 KB
Volume
30
Category
Article
ISSN
0883-0738

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## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter