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Last Updated: 10/31/2025

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Found 159 publications

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Journal: Human molecular genetics
Published: March 14, 2025

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Journal: Research square
Published: November 01, 2024

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Journal: Acta neuropathologica communications
Published: August 14, 2024

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: August 05, 2024

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Journal: Brain : a journal of neurology
Published: December 14, 2023

SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.

SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.

Journal: Journal of neuromuscular diseases
Published: October 09, 2023

Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension.

Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension.

Journal: BMJ case reports
Published: September 22, 2023

SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency.

SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency.

Journal: Indian journal of pediatrics
Published: May 08, 2023

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

Journal: BMC musculoskeletal disorders
Published: March 09, 2023

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.

Journal: Neuromuscular disorders : NMD
Published: January 23, 2022

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Journal: Journal of neuromuscular diseases
Published: December 05, 2021

Rigid Spine Muscular Dystrophy Type 1 Presenting with Neck Tilt.

Rigid Spine Muscular Dystrophy Type 1 Presenting with Neck Tilt.

Journal: The Journal of pediatrics
Published: October 29, 2021
Showing 1-12 of 159

Last Updated: 10/31/2025