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...