## 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
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in theSMN1gene
✍ Scribed by Laura Alías; Sara Bernal; Pablo Fuentes-Prior; María Jesus Barceló; Eva Also; Rebeca Martínez-Hernández; Francisco J. Rodríguez-Alvarez; Yolanda Martín; Elena Aller; Elena Grau; Ana Peciña; Guillermo Antiñolo; Enrique Galán; Alberto L. Rosa; Miguel Fernández-Burriel; Salud Borrego; José M. Millán; Concepción Hernández-Chico; Montserrat Baiget; Eduardo F. Tizzano
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 622 KB
- Volume
- 125
- Category
- Article
- ISSN
- 0340-6717
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