Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy1998 · 84 citations
2. 2Autosomal recessive Bethlem myopathy2009 · 72 citations
3. 3Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy2002 · 32 citations
4. 4Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey2021 · 3 citations
5. 5Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala2025