title: A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
abstract: We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene. Within this single family, the age of onset and disease severity varied among the family members. In addition, focal defects of nuclear membranes with chromatin blebs in endothelial cells was shown via electron microscopy.
authors.affiliation: Department of Neurology, College of Medicine, Hanyang University, 17 Haengdang-dong, Seongdong-gu, Seoul 133-792, South Korea.
authors.forename: Hyun Y
authors.initials: HY
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Seok-Jae
authors.initials: SJ
authors.lastname: Kang
authors.forename: Shin K
authors.initials: SK
authors.lastname: Khang
authors.forename: Seong-Ho
authors.initials: SH
authors.lastname: Koh
authors.forename: Dong-Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Seung H
authors.initials: SH
authors.lastname: Kim
authors.forename: Il-Hoon
authors.initials: IH
authors.lastname: Sung
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D002843:Chromatin / Q000473:pathology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D042783:Endothelial Cells / Q000378:metabolism / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009685:Nuclear Envelope / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics
chemical_list: D002843:Chromatin; D005819:Genetic Markers; C494847:LMNA protein, human; D034904:Lamin Type A; D011392:Proline; D007930:Leucine