Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy

Abstract 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 pr...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Sarcoglycanopathies
Haplotyping
Japan
Genetic Profile
RNA-Seq
Limb-Girdle muscular dystrophies
Online Access:https://doi.org/10.1186/s13023-024-03521-2
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