DAB2 as a biomarker and mechanistic link between lipid dysregulation and disease progression in LGMD R2

Abstract excerpt

Limb-girdle muscular dystrophy R2 (LGMD R2) is an autosomal recessive disorder caused by dysferlin deficiency, leading to progressive muscle weakness and wasting. Despite advances in understanding the mechanisms linking dysferlin loss to membrane fragility and muscle degeneration, the lack of robust clinical biomarkers has limited disease monitoring and therapeutic evaluation. Here, we identify Disabled-2 (DAB2) a...

Topics

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• Dysferlin
• Genetic Therapy
• Muscle Physiology and Disorders
• Muscle, Skeletal
• Muscular Dystrophies, Limb-Girdle
• Mutation
• Oligonucleotides, Antisense
• Phenotype

Identifiers and source

Literature Corpus work

bcc014a1-df79-5738-aff8-5ed03754eb20

DOI

10.1101/2025.09.11.675589