Spinal muscular atrophy (SMA) is an autosomal recessive disorder occurring at a rate of between 1/5,000 and 1/10,000 births in most European countries. The phenotype results from the degeneration of the anterior horn cells of the spinal cord, resulting in symmetrical muscle weakness and wasting. The
โฆ LIBER โฆ
Best practice guidelines for molecular analysis in spinal muscular atrophy
โ Scribed by Scheffer, Hans; Cobben, Jan Maarten; Matthijs, Gert; Wirth, Brunhilde
- Book ID
- 110025146
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 155 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1018-4813
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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
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