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Bethlem myopathy in a black creole pedigree
Cameron R Adams1, Karla P Figueroa, Lan Zu
1From 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.
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.
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