Novel COL6A1 Gene Variant Linked to Rare Muscle Disorder in Child
A novel homozygous COL6A1 variant classified as uncertain has been linked to classic Ullrich congenital muscular dystrophy in a three-year-old ...
Tag: neuromuscular disorders
New Myasthenia Gravis Playbook Pairs Fast-Acting Antibody Blockers With Long-Term Immune Therapies
Seven real-world cases from a Greek neuromuscular center show how FcRn antagonists, rituximab and ravulizumab can be sequenced in generalized ...
Efgartigimod in generalized myasthenia gravis: new commentary flags post-operative crisis gap
A new commentary on efgartigimod in generalized myasthenia gravis warns that post-operative myasthenic crisis is too often treated as a ...
Heavy Weights and Muscular Dystrophy: New Review Challenges Decades of Exercise Dogma in FSHD
A new narrative review in the Journal of Neurology argues that decades of caution against high-load resistance training in FSHD ...
Pregnancy Drug Patterns in Myasthenia Gravis Reveal Four Distinct Patient Journeys
A landmark Nordic register study of 339 pregnancies has identified four distinct medication use trajectories in women with myasthenia gravis, ...
Autoimmune Diseases May Quietly Worsen a Common Muscular Dystrophy
A large study of genetically confirmed FSHD1 patients finds that autoimmune comorbidities are strikingly overrepresented and independently associated with more ...
Whole-Genome Sequencing Outperforms Panel and Exome Tests for Diagnosing Myopathies
A nationwide French study of 265 patients shows whole-genome sequencing achieved a 26 percent conclusive diagnostic yield in previously unresolved ...
Common Asthma Drug Shows Promise for Rare Childhood Muscle Diseases in Landmark Trial
A Swedish randomised crossover trial found that six months of oral salbutamol significantly improved motor function, muscle strength and respiratory ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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