Article
Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
Arquivos de neuro-psiquiatria - 1 Oct 2013
Kosac Victor, Freitas Marcos R G de, Prado Frederico M, Nascimento Osvaldo J M, Bittar Caroline
Abstract excerpt
Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.