RNA-seq study on muscles of LGMD-R12 patients and controls

Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two recessive mutations in the anoctamin-5 gene. Our main aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three different thigh muscles that are severely (semimembranosus), moderately (vastus lateralis) or mildly (rectus femoris) affected in this disease. We performed transcriptomics on these three differently affected muscles in 16 male LGMD-R12 patients and 15 age-matched male controls.