Article
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
Neurogenetics - 1 Nov 2006
Scarciolla Oronzo, Stuppia Liborio, De Angelis Maria Vittoria, Murru Stefania, Palka Chiara, Giuliani Rossella, Pace Marta, Di Muzio Antonio, Torrente Isabella, Morella Annunziata, Grammatico Paola, Giacanelli Manlio, Rosatelli Maria Cristina, Uncini Antonino, Dallapiccola Bruno
Abstract excerpt
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, causing symmetric proximal muscle weakness. SMA is classified in three clinical types, SMA I, SMA II, and SMA III, based on the severity of the symptoms and the age of onset. About 95% of SMA cases are caused by homozygous deletion of the survival motor neuron 1 (SMN1) gene...
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