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Article

A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26.

Clinical genetics - 1 Oct 2022

Zhang Lin, Li Wenwu, Weng Yuting, Lin Keqin, Huang Kai, Ma Shaohui, Chu Jiayou, Yang Zhaoqing, Zhang Xiaochao, Sun Hao

Abstract excerpt

Limb-Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly heterogeneous genetic patterns and clinical phenotypes, and this group includes multiple subtypes. Different LGMD subtypes have similar phenotypes and clinical overlaps, these subtypes are difficult to distinguish by clinical symptoms alone and can only be accurately diagnosed by analysis in combination with definitive genetic test...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35842834
DOI: 10.1111/cge.14192

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