Profiling of Pathogenic Variants in Japanese Patients with Sarcoglycanopathy

Rui Shimazaki,Yoshihiko Saito,Tomonari Awaya,Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara,Shinichiro Hayashi,Akihide Takeuchi,Masatoshi Hagiwara,Yukiko K. Hayashi,Satoru Noguchi,Ichizo Nishino

Orphanet Journal of Rare Diseases（2025）

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Key words

Sarcoglycanopathies,Haplotyping,Japan,Genetic Profile,RNA-Seq,Limb-Girdle muscular dystrophies,Variants,Large deletion,Skeletal muscles,in silico prediction

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