Fig. 1
From: Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
STRAD flow diagram showing the genetic analysis carried out. We started with sequencing analyses, such as Sanger sequencing, panel analysis, whole-exome sequencing, or whole-genome sequencing. Aberrant splicing was detected using RNA-seq or RT-PCR in patients with exon–intron boundary or intronic variants. MLPA was applied to patients who were not diagnosed by sequencing analysis, and the breakpoints of a large SGCG deletion were identified using long-read sequencing