Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Article in Orphanet Journal of Rare Diseases (April 2024)
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Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases
Article in Scientific Reports (February 2024)
Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review
Article in Journal of Clinical Neuromuscular Disease (December 2023)