The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes, fro
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Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene
โ Scribed by Brahe, Christina ;Zappata, Stefania ;Bertini, Enrico
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 151 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g