title: The nuclear envelope: an intriguing focal point for neurogenetic disease.
abstract: Mutations in genes encoding nuclear envelope proteins cause a wide range of inherited diseases, many of which are neurological. We review the genetic causes and what little is known about pathogenesis of these nuclear envelopathies that primarily affect striated muscle, peripheral nerve and the central nervous system. We conclude by providing examples of experimental therapeutic approaches to these rare but important neuromuscular diseases.
authors.affiliation: Department of Medicine and Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, 10032, USA, hjw14@columbia.edu.
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Worman
authors.forename: William T
authors.initials: WT
authors.lastname: Dauer
mesh_terms: D000818:Animals; D002493:Central Nervous System Diseases / Q000235:genetics / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics / Q000628:therapy; D009685:Nuclear Envelope / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000628:therapy
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A