Genotyping of spinal muscular atrophy families with linked DNA probes
β Scribed by Massimo Gennarelli; Salvatore Melchionda; Cristina Fattorini; Giuseppe Novelli; Bruno Dallapiccola
- Book ID
- 115090348
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 255 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0009-9163
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X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male
Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. Th