title: [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
abstract: BACKGROUND
  Limb girdle muscular dystrophy type 1b (LGMD1B), due to LMNA gene mutations, is a relatively rare form of LGMD characterized by proximal muscle involvement associated with heart involvement comprising atrio-ventricular conduction blocks and dilated cardiomyopathy. Its clinical and genetic diagnosis is crucial for cardiac management and genetic counselling. Seven LMNA mutations have been previously reported to be responsible for LGMD1B.
  
  
  METHODS
  We describe the neurological and cardiologic features of 14 patients belonging to 8 families in whom we identified 6 different LMNA mutations, 4 of them having never been reported. Results. Eleven patients had an LGMD1B phenotype with scapulohumeral and pelvic-femoral involvement. Thirteen patients had cardiac disease associating conduction defects (12 patients) or arrhythmias (9 patients). Seven patients needed cardiac device (pacemaker or implantable cardiac defibrillator) and two had heart transplantation.
  
  
  CONCLUSIONS
  This study allowed us to specify the clinical characteristics of this entity and to outline the first phenotype/genotype relations resulting from these observations.
authors.affiliation: INSERM U582-Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris. r.benyaou@myologie.chups.jussieu.fr
authors.forename: R
authors.initials: R
authors.lastname: Ben Yaou
authors.forename: H-M
authors.initials: HM
authors.lastname: Bécane
authors.forename: L
authors.initials: L
authors.lastname: Demay
authors.forename: P
authors.initials: P
authors.lastname: Laforet
authors.forename: D
authors.initials: D
authors.lastname: Hannequin
authors.forename: P-A
authors.initials: PA
authors.lastname: Bohu
authors.forename: V
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: J-M
authors.initials: JM
authors.lastname: Mussini
authors.forename: E
authors.initials: E
authors.lastname: Ollagnon
authors.forename: P
authors.initials: P
authors.lastname: Petiot
authors.forename: I
authors.initials: I
authors.lastname: Penisson-Besnier
authors.forename: N
authors.initials: N
authors.lastname: Streichenberger
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: G
authors.initials: G
authors.lastname: Bonne
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000503:physiopathology; D015415:Biomarkers; D003402:Creatine Kinase / Q000097:blood; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006329:Heart Conduction System / Q000503:physiopathology; D006331:Heart Diseases / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D006801:Humans; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology*; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: D015415:Biomarkers; C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins; D003402:Creatine Kinase