Related Experiment Video
Updated: May 20, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
T Cullup1, P J Lamont, S Cirak
1DNA Laboratory, GSTS Pathology, Guy's Hospital, London, UK.
Mutations in the MYH7 gene are identified as a new cause of Multi-minicore Disease (MmD), a skeletal muscle disorder. These genetic findings in patients highlight MYH7 as a significant factor in core myopathies, especially with cardiac involvement.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Central Core Disease (CCD) and Multi-minicore Disease (MmD), known as core myopathies, are primarily linked to RYR1 and SEPN1 gene mutations.
- Some cases of core myopathies remain genetically unresolved.
- MYH7 gene mutations have been associated with cardiac disorders and, less commonly, skeletal muscle conditions.
More Related Videos
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy II: Dilated Cardiomyopathy
Mitral Valve Prolapse I: Introduction
Cardiomyopathy V: Interprofessional Care
Mitral Stenosis I: Introduction

