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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Authors

Bukola A. Olarewaju - School of Science and Engineering, University of Dundee, United Kingdom

David Melville - Department of Radiology, Mayo Clinic, Phoenix, AZ, USA

Judy B. Tejon - Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA

Khaled I. Dweik - Department of Neurology, Mayo Clinic, AZ, USA

George Bcharah - Mayo Clinic Alix School of Medicine, Mayo Clinic, Phoenix, Arizona, USA

Robert S. Platou - Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA

Radhika Dhamija - Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA

Fadi Shamoun - Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, AZ, USA

Mayowa A. Osundiji - Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, AZ, USA

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright

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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