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Gene analysis and clinical features of 22 GNE myopathy patients.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2022

Guo Xuan, Zhao Zhe, Shen Hongrui, Bing Qi, Li Nan, Chen Jiannan, Hu Jing

Abstract excerpt

INTRODUCTION: GNE myopathy is an autosomal recessive distal myopathy caused by a biallelic mutation in UDP-N-acetylglucosamine 2-epomerase/N-acetylmannosamine kinase. In this study, we discuss the clinical features, pathological characteristics, genetic profiles, and atypical clinical manifestations of 22 Chinese GNE patients. MATERIALS AND METHODS: Retrospective analysis was performed for GNE myopathy patients...

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PMID: 35438352
DOI: 10.1007/s10072-022-06023-w

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