Neuromuscular disorders : NMD · 2025
Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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 progressive limb weakness, dysphagia, and severe respiratory difficulties. Muscle pathology was characterized by rimmed vacuoles, and abnormal protein aggregates rather than minicores. Four novel heterozygous variants in MEGF10 were identified: c.1A>T, p.(Met1?); c.370T>C, p.(Cys124Arg); c.2087G>T, p.(Gly696Val); and c.2484T>G, p.(Cys828Trp). This report enriches the genetic and phenotypic landscape of EMARDD and further advances our understanding of MEGF10-related myopathies.