Article
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
American journal of human genetics - 13 Jul 2012
Zhou Jie, Tawk Marcel, Tiziano Francesco Danilo, Veillet Julien, Bayes Monica, Nolent Flora, Garcia Virginie, Servidei Serenella, Bertini Enrico, Castro-Giner Francesc, Renda Yavuz, Carpentier Stéphane, Andrieu-Abadie Nathalie, Gut Ivo, Levade Thierry, Topaloglu Haluk, Melki Judith
Abstract excerpt
Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1. Through linkage analysis, homozygosity mapping, and exome...
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