title: Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
authors.affiliation: Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Sick Children and Institute of Child Health, London, UK. Electronic address: c.sewry@imperial.ac.uk.
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
authors.affiliation: Charité - Universitätsmedizin Berlin, Germany. Electronic address: hans-hilmar.goebel@charite.de.
authors.forename: Hans H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009685:Nuclear Envelope / Q000648:ultrastructure*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins