Neuromuscular disorders : NMD
Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.
Bochen Zhu, Kexin Jiao, Darrel Sou Li, Jialong Zhang, Ning Zhu, Xingyu Xia, Lingchun Liu, Mingshi Gao, Nachuan Cheng, Ningning Wang, Sushan Luo, Jianying Xi, Chongbo Zhao, Shengqing Li, Wenhua Zhu
Published: 202510.1016/j.nmd.2025.106307
Abstract
Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is a muscular dystrophy associated with pathogenic variants in MEGF10, with previous studies suggesting a potential genotype-phenotype correlation. In this report, we prese…
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