Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

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Population

Large American pedigree with Bethlem myopathy and 338 unrelated Caucasian control chromosomes

Authors

Discussion

Supports COL6A3 globular domain testing in Bethlem myopathy families; extends mutational spectrum but leaves validation to larger cohorts.

Population

Large American pedigree with Bethlem myopathy (19 affected, 12 unaffected) and 338 unrelated Caucasian control chromosomes

Comparator

Unaffected family members and unrelated Caucasian control chromosomes

Outcome

Identification of genetic mutation causing Bethlem myopathy

Mutations in the globular domain of type VI collagen (COL6A3) can cause Bethlem myopathy.

Tao Pan (1998) studied this question.

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Supports COL6A3 globular domain testing in Bethlem myopathy families; extends mutational spectrum but leaves validation to larger cohorts.