Myofibrillar Myopathy Latest Advances

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

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Pseudo-Obstruction of the Colon Associated With Segmental Additional Muscle and Fibrous Coat: A Rare Specimen With Novel Quantitative Immunohistochemical Analysis.

Journal: International journal of surgical pathology

Published: May 19, 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

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.

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?

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.

Journal: Diagnostics (Basel, Switzerland)

Published: July 27, 2025

Novel muscle MRI features in Desmin related myasthenic myopathy.

Journal: Neuromuscular disorders : NMD

Published: July 06, 2025

Myofibrillar Myopathy Latest Advances

Find the Latest Research About Myofibrillar Myopathy

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.

Pseudo-Obstruction of the Colon Associated With Segmental Additional Muscle and Fibrous Coat: A Rare Specimen With Novel Quantitative Immunohistochemical Analysis.

Pseudo-Obstruction of the Colon Associated With Segmental Additional Muscle and Fibrous Coat: A Rare Specimen With Novel Quantitative Immunohistochemical Analysis.

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.

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?

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

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

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?

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.

Novel muscle MRI features in Desmin related myasthenic myopathy.

Novel muscle MRI features in Desmin related myasthenic myopathy.