X-Linked Myotubular Myopathy Latest Advances

Find the Latest Research About X-Linked Myotubular Myopathy

Last Updated: 09/26/2026

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Found 2106 publications

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Journal: Journal of neuromuscular diseases

Published: August 14, 2026

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

Myositis with nemaline rods: Clinical features and treatment outcomes.

Myositis with nemaline rods: Clinical features and treatment outcomes.

Journal: Journal of the neurological sciences

Published: July 04, 2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Journal: Human molecular genetics

Published: June 30, 2026

Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6.

Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6.

Journal: Science translational medicine

Published: June 24, 2026

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.

Journal: BMJ case reports

Published: May 26, 2026

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights.

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights.

Journal: Frontiers in pediatrics

Published: May 24, 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

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature.

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature.

Journal: Pediatric reports

Published: May 18, 2026

Nemaline Myopathy in Systemic Lupus Erythematosus.

Nemaline Myopathy in Systemic Lupus Erythematosus.

Journal: European journal of rheumatology

Published: May 12, 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

The many faces of Orai1 dysfunction: Molecular mechanisms and clinical manifestations.

The many faces of Orai1 dysfunction: Molecular mechanisms and clinical manifestations.

Journal: The Journal of general physiology

Published: April 24, 2026

Showing 1-12 of 2,106

Last Updated: 09/26/2026