Centronuclear Myopathy Latest Advances

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome and their restoration at the cellular level.

Journal: American journal of physiology. Cell physiology

Published: April 15, 2026

A Rare Phenotype of X-linked Myotubular Myopathy: Hydrops Fetalis and Refractory Congenital Chylothorax with Fatal Outcome.

Journal: Zeitschrift fur Geburtshilfe und Neonatologie

Published: March 26, 2026

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: December 15, 2025

X-linked myotubular myopathy in a neonate: a case report and literature review.

Journal: Frontiers in pediatrics

Published: October 29, 2025

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Journal: Cureus

Published: October 07, 2025

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Journal: Journal of neuromuscular diseases

Published: September 19, 2025

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.

Journal: European journal of neurology

Published: August 27, 2025

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Journal: European journal of human genetics : EJHG

Published: August 08, 2025

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Journal: Frontiers in neurology

Published: July 08, 2025

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.

Journal: Annals of neurology

Published: June 27, 2025

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Journal: Journal of neuromuscular diseases

Published: June 10, 2025

Centronuclear Myopathy Latest Advances

Find the Latest Research About Centronuclear Myopathy

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome and their restoration at the cellular level.

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome and their restoration at the cellular level.

A Rare Phenotype of X-linked Myotubular Myopathy: Hydrops Fetalis and Refractory Congenital Chylothorax with Fatal Outcome.

A Rare Phenotype of X-linked Myotubular Myopathy: Hydrops Fetalis and Refractory Congenital Chylothorax with Fatal Outcome.

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

X-linked myotubular myopathy in a neonate: a case report and literature review.

X-linked myotubular myopathy in a neonate: a case report and literature review.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.