Article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
European journal of human genetics : EJHG - 1 Jun 2013
Tiziano Francesco D, Lomastro Rosa, Di Pietro Lorena, Barbara Pasanisi Maria, Fiori Stefania, Angelozzi Carla, Abiusi Emanuela, Angelini Corrado, Sorarù Gianni, Gaiani Alessandra, Mongini Tiziana, Vercelli Liliana, Vasco Gessica, Vita Giuseppe, Luca Vita Gian, Messina Sonia, Politano Luisa, Passamano Luigia, Di Gregorio Grazia, Montomoli Cristina, Orsi Chiara, Campanella Angela, Mantegazza Renato, Morandi Lucia
Abstract excerpt
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are recognized (types I-III). All patients usually have 2-4 copies of a highly homologous gene (SMN2), which produces insufficient levels of functional survival motor neuron (SMN) protein due to the alternative splicing of exon 7. The availability of...
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