Centronuclear Myopathy Latest Advances

Find the Latest Research About Centronuclear Myopathy

Last Updated: 09/19/2026

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Found 344 publications

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies.

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies.

Journal: BMJ open

Published: August 04, 2026

Single nucleus RNA sequencing of juvenile dermatomyositis skeletal muscle identifies altered angiogenic signaling.

Single nucleus RNA sequencing of juvenile dermatomyositis skeletal muscle identifies altered angiogenic signaling.

Journal: bioRxiv : the preprint server for biology

Published: May 18, 2026

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.

Journal: Frontiers in medicine

Published: May 08, 2026

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.

Journal: Zeitschrift fur Geburtshilfe und Neonatologie

Published: March 26, 2026

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy.

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy.

Journal: Muscles (Basel, Switzerland)

Published: March 04, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

Lean mass to soft tissue ratio in Chinese fetuses: A novel predictor of congenital myopathy.

Lean mass to soft tissue ratio in Chinese fetuses: A novel predictor of congenital myopathy.

Journal: Early human development

Published: December 06, 2025

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.

Journal: Frontiers in pediatrics

Published: October 29, 2025

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.

Journal: Cureus

Published: October 07, 2025

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.

Journal: Journal of neuromuscular diseases

Published: September 19, 2025

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.

Journal: Frontiers in neurology

Published: July 08, 2025

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.

Journal: Annals of neurology

Published: June 27, 2025

Showing 1-12 of 344

Last Updated: 09/19/2026