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Open access Oct 2026

Single-cell transcriptome analysis of muscle and blood tissues from a patient with a rare homozygous ANO5 variant causing limb-girdle muscular dystrophy type R12

Limb-girdle muscular dystrophy type R12 (LGMD R12) is a recessive genetic myopathy, typically caused by pathogenic variants in anoctamin-5 (ANO5) , which encodes a multipass membrane protein localized to the sarcolemma and sarcoplasmic reticulum of muscle fibers. Effective therapeutic strategies for LGMD R12 re...

Ming Chen, Ge Dong, Yue Wang et al. · 0 citations

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