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1-09-04 Clinical analysis of spinal muscular atrophy in a chilean population

✍ Scribed by Avaria B. Maria de los Angeles; Kleinsteuber S. Karin; Dragnic C. Yuri; Coria D. Carolina


Book ID
119468952
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
169 KB
Volume
150
Category
Article
ISSN
0022-510X

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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