Article
Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Neuromuscular disorders : NMD - 1 May 2022
Fujii Kanako, Hirano Makito, Terayama Atsushi, Inada Rino, Saito Yoshihiko, Nishino Ichizo, Nagai Yoshitaka
Abstract excerpt
Mutations in MEGF10 are associated with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). Recently, a mild variant phenotype of EMARDD has been reported in patients with multiple minicores in the myofibers. However, some reported patients had no clear cores. We present a patient who had progressive weakness since his 30 s and then developed severe respiratory failure at the age of 66...
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