Article
Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.
JPMA. The Journal of the Pakistan Medical Association - 1 May 2020
Ban Rui, Lu Xianghui, Pu Chuanqiang, Wang Huifang, Liu Huaxu, Zhang Yutong, Shi Qiang
Abstract excerpt
GNE myopathy is an adult-onset muscle disorder featuring distal muscle atrophy and weakness. Rimmed vacuoles found in the muscle biopsies and gene mutations lead to the diagnosis of GNE myopathy. We collected clinical information, performed muscle biopsies and genetic testing on three patients. These cases developed typical disease presentations with distal muscle weakness at the ages of 26, 23, and 37 years....
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