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Article

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Neuromuscular disorders : NMD - 1 Feb 2026

Zhu Bochen, Jiao Kexin, Li Darrel Sou, Zhang Jialong, Zhu Ning, Xia Xingyu, Liu Lingchun, Gao Mingshi, Cheng Nachuan, Wang Ningning, Luo Sushan, Xi Jianying, Zhao Chongbo, Li Shengqing, Zhu Wenhua

Abstract excerpt

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 present three patients from two unrelated families finally diagnosed with a milder phenotype of EMARDD. All patients presented with adulthood-onset disease, featuring...

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PMID: 41475242
DOI: 10.1016/j.nmd.2025.106307

Genes

MEGF10

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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