Myofibrillar Myopathy Latest Advances

Spontaneous rhabdomyosarcomas in Dmdmdx rats.

Journal: Veterinary pathology

Published: June 30, 2026

FBXL21 regulates diurnal proteostasis and stress response by targeting DNAJB6 and client proteins.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Desminopathy: A Rare Cause of Cardiac Arrhythmia.

Journal: JACC. Case reports

Published: April 15, 2026

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 26, 2026

Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure.

Journal: Cell death discovery

Published: February 21, 2026

Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant.

Journal: European heart journal. Case reports

Published: January 09, 2026

The myofibrillar myopathy-linked variant DES-p.T341P impairs desmin filament assembly.

Journal: Molecular biology reports

Published: December 19, 2025

High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (DES) Variants.

Journal: medRxiv : the preprint server for health sciences

Published: November 19, 2025

A Novel De Novo DES Mutation Associated with Early-Onset Restrictive Cardiomyopathy and Complex Phenotype: A Case Report.

Journal: CJC open

Published: October 31, 2025

Adult-onset desmin myopathy in a patient with multiple sclerosis.

Journal: Ideggyogyaszati szemle

Published: October 01, 2025

CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for cellular release.

Journal: iScience

Published: August 18, 2025

Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?

Journal: Frontiers in cardiovascular medicine

Published: August 12, 2025

Myofibrillar Myopathy Latest Advances

Find the Latest Research About Myofibrillar Myopathy

Spontaneous rhabdomyosarcomas in Dmdmdx rats.

Spontaneous rhabdomyosarcomas in Dmdmdx rats.

FBXL21 regulates diurnal proteostasis and stress response by targeting DNAJB6 and client proteins.

FBXL21 regulates diurnal proteostasis and stress response by targeting DNAJB6 and client proteins.

Desminopathy: A Rare Cause of Cardiac Arrhythmia.

Desminopathy: A Rare Cause of Cardiac Arrhythmia.

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure.

Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure.

Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant.

Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant.

The myofibrillar myopathy-linked variant DES-p.T341P impairs desmin filament assembly.

The myofibrillar myopathy-linked variant DES-p.T341P impairs desmin filament assembly.

High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (DES) Variants.

High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (DES) Variants.

A Novel De Novo DES Mutation Associated with Early-Onset Restrictive Cardiomyopathy and Complex Phenotype: A Case Report.

A Novel De Novo DES Mutation Associated with Early-Onset Restrictive Cardiomyopathy and Complex Phenotype: A Case Report.

Adult-onset desmin myopathy in a patient with multiple sclerosis.

Adult-onset desmin myopathy in a patient with multiple sclerosis.

CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for cellular release.

CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for cellular release.

Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?

Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?