Autor: Ming Chen
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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
BackgroundLimb-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 reticul…