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A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.

Gene - 15 Nov 2024

Li Yufei, Li Wenwu, Fan Baitong, Zhang Yao, Li Zhaoqing, Lin Keqin, Huang Kai, Yang Zhaoqing, Ma Shaohui, Sun Hao

Abstract excerpt

Distal myopathies are a group of rare heterogeneous diseases that are mostly caused by genetic factors. At least 20 genes have been associated with distal myopathies. We performed whole-exome sequencing to identify the genetic cause of disease in a family with distal myopathy. Following the American College of Medical Genetics and Genomics (ACMG) guidelines, we analyzed the sequencing results and screened...

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PMID: 38971548
DOI: 10.1016/j.gene.2024.148750

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