Related Experiment Video
Updated: Jun 7, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Oculopharyngodistal myopathy--a possible association with cardiomyopathy
Wesley Thevathasan1, Waney Squier, David H MacIver
1Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
Abstract:
Oculopharyngodistal myopathy is an uncommon myopathy characterised clinically by cranial and distal limb muscle weakness. Here we describe two siblings with autosomal dominant oculopharyngodistal myopathy apparently associated with dilated cardiomyopathy, which in one case progressed to ventricular hypertrabeculation/non-compaction. Electrocardiographic screening was normal and the cardiomyopathy was detected only with echocardiography. Our findings suggest that patients with oculopharyngodistal myopathy should be screened for cardiomyopathy (with both electrocardiography and echocardiography).
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Myasthenia Gravis ll: Pathophysiology

