Article

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

2024-05-06

Abstract excerpt

<h4>Introduction: </h4> Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to L...

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Literature Corpus work: 974e1317-a585-5e99-b644-cab0fff71801
DOI: 10.1101/2024.05.03.592369

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