title: Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
abstract: Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD family, including a mother and two daughters, and found a novel mutation in codon 520 in exon 9 of the lamin A/C (LMNA) gene, resulting in a substitution of tryptophan (W) by glycine (G) in all three patients. The mother died after a stroke-like episode at the age of 43. The elder sister received pacemaker implantation, which improved symptoms of exercise intolerance and dizziness. These cases illustrate the necessity of correct diagnosis, evaluation, and follow-up of cardiac problems due to the wide clinical spectrum and high prevalence of cardiac conduction block in patients with autosomal dominant EDMD.
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Wen-Chen
authors.initials: WC
authors.lastname: Liang
authors.forename: Chung-Yee
authors.initials: CY
authors.lastname: Yuo
authors.forename: Chun-Ya
authors.initials: CY
authors.lastname: Liu
authors.forename: Chee-Siong
authors.initials: CS
authors.lastname: Lee
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Yuh-Jyh
authors.initials: YJ
authors.lastname: Jong
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation
chemical_list: D034904:Lamin Type A