Key result
Bethlem myopathy can occur with a recessive mode of inheritance, as demonstrated by two unrelated patients carrying compound heterozygous COL6A2 mutations.
Population
2 unrelated patients with autosomal recessive Bethlem myopathy
Design
Case_series
Authors
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Recessive COL6A2 inheritance may refine genetic counseling in Bethlem myopathy; leaves open confirmation before practice change.
Case Report (n=2)
Bethlem myopathy can occur with a recessive mode of inheritance, which has relevant implications for genetic counseling and molecular characterization.
Gualandi et al. (2009) conducted a case report in Bethlem myopathy (n=2). Recessive COL6A2 mutations was evaluated on Clinical, laboratory, and genetic features including collagen VI expression. Bethlem myopathy can occur with a recessive mode of inheritance, as demonstrated by two unrelated patients carrying compound heterozygous COL6A2 mutations.
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