Comorbid autosomal dominant LDLR- and collagen VI-related disorders

TY - JOUR

T1 - Comorbid autosomal dominant LDLR- and collagen VI-related disorders

AU - Olarewaju, Bukola A.

AU - Melville, David

AU - Tejon, Judy B.

AU - Dweik, Khaled I.

AU - Bcharah, George

AU - Platou, Robert S.

AU - Dhamija, Radhika

AU - Shamoun, Fadi

AU - Osundiji, Mayowa A.

N1 - Publisher Copyright: © Gaetano Conte Academy - Mediterranean Society of Myology.

PY - 2025/9/30

Y1 - 2025/9/30

N2 - 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.

AB - 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.

KW - COL6A3

KW - collagen

KW - hyperlipidemia

KW - LDLR

KW - phenotype

UR - https://www.scopus.com/pages/publications/105017877525

U2 - 10.36185/2532-1900-1521

DO - 10.36185/2532-1900-1521

M3 - Article

C2 - 41199734

AN - SCOPUS:105017877525

SN - 1128-2460

VL - 44

JO - Acta Myologica

JF - Acta Myologica

IS - 3

ER -