Rigid Spine Syndrome Latest Advances
Find the Latest Research About Rigid Spine Syndrome
Last Updated: 02/24/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 159 publications
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.
Journal: Research square
Published: November 01, 2024
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.
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.
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.
Journal: Journal of neuromuscular diseases
Published: October 09, 2023
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.
Journal: Indian journal of pediatrics
Published: May 08, 2023
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.
Journal: Neuromuscular disorders : NMD
Published: January 23, 2022
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.
Journal: The Journal of pediatrics
Published: October 29, 2021
Last Updated: 02/24/2026