Article
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Orphanet journal of rare diseases - 4 Jan 2025
Shimazaki Rui, Saito Yoshihiko, Awaya Tomonari, Minami Narihiro, Kurosawa Ryo, Hosokawa Motoyasu, Ohara Hiroaki, Hayashi Shinichiro, Takeuchi Akihide, Hagiwara Masatoshi, Hayashi Yukiko K, Noguchi Satoru, Nishino Ichizo
Abstract excerpt
BACKGROUND: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients. METHODS: Clinical course and pathological findings were...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Humans
- Male
- Middle Aged
- Young Adult
- East Asian People
- Japan
- Mutation
- Retrospective Studies
- Sarcoglycanopathies