title: Familial skeletal myopathy with atrioventricular block.
abstract: OBJECTIVE
  We studied familial cases of skeletal myopathy with atrial fibrillation (Af) and atrioventricular (AV) block to compare the clinical features to other myopathies associated with cardiac abnormalities.
  
  
  METHODS
  Neurologic, cardiologic, electrophysiologic, muscle pathology, and genetic studies were performed on the patients showing muscle weakness.
  
  
  METHODS
  Four patients (a 63-year-old mother, 30 and 32-year-old sisters, and their maternal grandmother) and three healthy family members from three generations were studied. The mode of inheritance was suspected as autosomal dominant.
  
  
  RESULTS
  Two sisters with congenital myopathy without rigid spine developed Af and AV block at the age of 28 and 18, respectively. The mother showed AV block, and underwent pacemaker implantation at the age of 63. The maternal grandmother had dilated cardiomyopathy, Af and severe lordosis. She died of stroke attacks and congestive heart failure at the age of 78. Muscle biopsy obtained from the mother and sisters showed myopathic changes without characteristic abnormalities. No mitochondrial DNA mutations were found. Other inherited myopathies with cardiac complications were not suspected in this family.
  
  
  CONCLUSIONS
  This Japanese family appears to belong to a new genetically heterogeneous group of autosomal dominant skeletal myopathy with severe AV block and Af.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University School of Medicine.
authors.forename: R
authors.initials: R
authors.lastname: Ohkubo
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Utatsu
authors.forename: H
authors.initials: H
authors.lastname: Miyazato
authors.forename: Y
authors.initials: Y
authors.lastname: Atsuchi
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D000368:Aged; D001281:Atrial Fibrillation / Q000209:etiology*; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000235:genetics; D004562:Electrocardiography; D005260:Female; D005799:Genes, Dominant; D006327:Heart Block / Q000209:etiology*; D006801:Humans; D007564:Japan; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial