Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization

Abstract Limb-girdle muscular dystrophy R8 (LGMD R8) is a hereditary muscle disease caused by biallelic defects in E3 ubiquitinated ligase gene (TRIM32). LGMD R8 is featured by high genetic heterogeneity and phenotypic diversity, most pathogenic variants are missense variants located in the NHL doma...

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Main Authors: Xiongda Liang, Jiameng Si, Hongting Xie, Yuqing Guan, Wanying Lin, Zezhang Lin, Ganwei Zheng, Xiaofeng Wei, Xingbang Xiong, Zhengfei Zhuang, Xuan Shang
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Acta Neuropathologica Communications
Subjects:
Genotype-phenotype correlation
LGMD R8
NHL domain
Oligomerization
TRIM32
Online Access:https://doi.org/10.1186/s40478-025-01971-8
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https://doi.org/10.1186/s40478-025-01971-8

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