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Clinical, genetic, and pathological characterization of GNE myopathy in China.

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

Lv Xiao-Qing, Xu Ling, Lin Peng-Fei, Yan Chuan-Zhu

Abstract excerpt

BACKGROUND: GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy. METHODS: We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations,...

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PMID: 35138478
DOI: 10.1007/s10072-022-05938-8

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