Tubular Aggregate Myopathy Latest Advances

MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.

Journal: BMJ case reports

Published: May 26, 2026

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

Journal: bioRxiv : the preprint server for biology

Published: May 18, 2026

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

STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.

Journal: Cells

Published: April 10, 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

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

Journal: Muscles (Basel, Switzerland)

Published: March 04, 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

Parents' Perspectives on Home Care for Children With Nemaline Myopathy: A Qualitative Study.

Journal: Child: care, health and development

Published: February 02, 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

DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target.

Journal: JCI insight

Published: January 08, 2026

Tubular Aggregate Myopathy Latest Advances

Find the Latest Research About Tubular Aggregate Myopathy

MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.

MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.

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.

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.

STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.

STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.

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.

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

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

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.

Parents' Perspectives on Home Care for Children With Nemaline Myopathy: A Qualitative Study.

Parents' Perspectives on Home Care for Children With Nemaline Myopathy: A Qualitative Study.

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.

DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target.

DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target.