Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants
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Updated: Jan 7, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Bochen Zhu1, Kexin Jiao1, Darrel Sou Li2
1Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China.
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 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.
