Bethlem myopathy in a black creole pedigree

Abstract

Objectives: 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.