title: Bethlem myopathy in a black creole pedigree.
abstract: OBJECTIVE
  To analyze the clinical and molecular features of a distinctive muscular dystrophy in a family of black Creole descent.
  
  
  METHODS
  We clinically characterized a four-generation pedigree and performed linkage analysis for all relevant autosomal-dominant muscular dystrophies.
  
  
  RESULTS
  Affected family members had minor neurologic dissimilarities from previously reported Bethlem myopathy pedigrees and a high incidence of keloid formation. Multipoint linkage analysis traced the family's disease to the region of the collagen genes COL6A1-COL6A2.
  
  
  CONCLUSIONS
  We report that Bethlem myopathy was linked to the collagen VIA1-2 region on chromosome 21q22.3 in a black Creole family. This is the first report of molecular-proven Bethlem myopathy in a family of either Creole or African-American descent. Although the correlation of Bethlem myopathy and keloids was not statistically significant, the possible connection between these two abnormalities raises the possibility of a common pathophysiological link involving collage VIA.
authors.affiliation: From the *Division of Neurology, Cedars-Sinai Medical Center; Los Angeles, California; the daggerDepartment of Neurology, UCLA; Los Angeles, California; and the double daggerDepartment of Neurology, Tulane University, New Orleans, Louisiana.
authors.forename: Cameron R
authors.initials: CR
authors.lastname: Adams
authors.forename: Karla P
authors.initials: KP
authors.lastname: Figueroa
authors.forename: Lan
authors.initials: L
authors.lastname: Zu
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Anderson
authors.forename: Michael C
authors.initials: MC
authors.lastname: Graves
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Garcia
authors.forename: Stefan-M
authors.initials: SM
authors.lastname: Pulst