Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy......
Calì, F., Ruggeri, G., Chiavetta, V., Scuderi, C., Bianca, S., Barone, C., et al. (2014). Carrier screening for spinal muscular atrophy in Italian population. JOURNAL OF GENETICS, 93(1), 179-181 [10.1007/s12041-014-0323-x].
Carrier screening for spinal muscular atrophy in Italian population
ROMANO, Valentino;
2014-04-01
Abstract
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy......
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