Case Reports
Volume XLIV n. 3 - September 2025
Comorbid autosomal dominant LDLR- and collagen VI-related disorders
Abstract
Objectives. Collagen 6-related Bethlem myopathy and LDLR-related familial hypercholesterolemia are presumed to be quite rare in the general population.
Case report. Here, we present the clinical findings from a 65-year-old man with comorbid Bethlem myopathy and familial hypercholesterolemia to highlight some important molecular diagnostic considerations and clinical management implications.
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Copyright (c) 2025 Acta Myologica
How to Cite
Olarewaju, B. A., Melville, D. ., Tejon, J. B., Dweik, K. I., Bcharah, G., Platou, R. S., Dhamija, R., Shamoun, F., & Osundiji, M. A. (2025). Comorbid autosomal dominant LDLR- and collagen VI-related disorders. Acta Myologica, 44(3). https://doi.org/10.36185/2532-1900-1521
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