Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyHumansMaleAgedHyperlipoproteinemia Type IICollagen Type VI
Comorbid autosomal dominant LDLR- and collagen VI-related disorders.
Bukola A Olarewaju, David Melville, Judy B Tejon, Khaled I Dweik, George Bcharah, Robert S Platou, Radhika Dhamija, Fadi Shamoun, Mayowa A Osundiji
Published: 202510.36185/2532-1900-1521
Abstract
Open AccessObjectives: 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.