Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases

"There will be no visits from participants, so we will be using samples already in the Biological Resources Centre (CRB).~RNA will be extracted from muscle biopsies taken as part of the treatment. RNAseq libraries will be sequenced by the Genomics and Bioinformatics Platform (GBiM) at Marseille Medical Genetics (MMG, U1251, AMU). Sequencing will be performed in paired-end (2\*100 bp) on Illumina's Novaseq 6000 system (50 million clusters per sample, 100 M paired-end reads) and then analysed by bioinformatics."