Tubular Aggregate 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

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.

Journal: JCI insight

Published: April 09, 2026

Incidence, Timing and Clinical Significance of Immune-Mediated Myocardial Injury and Myocarditis After Gene Replacement Therapy: A Systematic Review and Meta-Analysis.

Journal: Circulation. Heart failure

Published: April 07, 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

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.

Journal: Science translational medicine

Published: February 18, 2026

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Journal: Cells

Published: February 12, 2026

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: January 21, 2026

Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.

Journal: Internal medicine (Tokyo, Japan)

Published: January 14, 2026

Exacerbated Skeletal Muscle Phenotype in Mice with 'Homotypic' Expression of the Tubular Aggregate Myopathy ORAI1 G100S Mutation.

Journal: Biomedicines

Published: January 07, 2026

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.

Journal: Cureus

Published: December 29, 2025

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Journal: Neuromuscular disorders : NMD

Published: December 22, 2025

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

Tubular Aggregate Myopathy Latest Advances

Find the Latest Research About Tubular Aggregate 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.

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.

Incidence, Timing and Clinical Significance of Immune-Mediated Myocardial Injury and Myocarditis After Gene Replacement Therapy: A Systematic Review and Meta-Analysis.

Incidence, Timing and Clinical Significance of Immune-Mediated Myocardial Injury and Myocarditis After Gene Replacement Therapy: A Systematic Review and Meta-Analysis.

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.

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.

Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.

Sporadic Late-Onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome: A Case Report.

Exacerbated Skeletal Muscle Phenotype in Mice with 'Homotypic' Expression of the Tubular Aggregate Myopathy ORAI1 G100S Mutation.

Exacerbated Skeletal Muscle Phenotype in Mice with 'Homotypic' Expression of the Tubular Aggregate Myopathy ORAI1 G100S Mutation.

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review.

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

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.