title: Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
authors: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, , Tübingen, Germany.
authors: Matthis
authors: M
authors: Synofzik
authors: Lilian A
authors: LA
authors: Martinez-Carrera
authors: Tobias
authors: T
authors: Lindig
authors: Ludger
authors: L
authors: Schöls
authors: Brunhilde
authors: B
authors: Wirth
mesh_terms: D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C561542:BICD2 protein, human; D002352:Carrier Proteins; D008869:Microtubule-Associated Proteins
keywords: Motor Neuron Disease; Neurogenetics