Myofibrillar Myopathy Latest Advances

Find the Latest Research About Myofibrillar Myopathy

Last Updated: 04/28/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 393 publications

Mechanisms of protein degradation in atrophying muscles: What have we learned during the past decade?

Mechanisms of protein degradation in atrophying muscles: What have we learned during the past decade?

Journal: The Journal of biological chemistry

Published: November 20, 2025

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.

Journal: medRxiv : the preprint server for health sciences

Published: November 19, 2025

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

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

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

Journal: Ideggyogyaszati szemle

Published: October 01, 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?

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

Infrequent, but Not Intricate Radiological and Pathological Diagnosis of Chronic Intestinal Pseudo-Obstruction-Presented in a Two Pediatrics Cases of the Visceral Myopathy.

Infrequent, but Not Intricate Radiological and Pathological Diagnosis of Chronic Intestinal Pseudo-Obstruction-Presented in a Two Pediatrics Cases of the Visceral Myopathy.

Journal: Diagnostics (Basel, Switzerland)

Published: July 27, 2025

Novel muscle MRI features in Desmin related myasthenic myopathy.

Novel muscle MRI features in Desmin related myasthenic myopathy.

Journal: Neuromuscular disorders : NMD

Published: July 06, 2025

Review of 40 genes causing congenital myasthenic syndromes.

Review of 40 genes causing congenital myasthenic syndromes.

Journal: Journal of human genetics

Published: June 01, 2025

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy.

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy.

Journal: Acta physiologica (Oxford, England)

Published: June 01, 2025

Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation.

Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation.

Journal: Frontiers in cardiovascular medicine

Published: April 11, 2025

Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.

Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.

Journal: Journal of medical genetics

Published: April 10, 2025

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier.

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier.

Journal: Frontiers in genetics

Published: March 21, 2025

Showing 1-12 of 393

Last Updated: 04/28/2026