Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy

Kanako Fujii,Makito Hirano,Atsushi Terayama,Rino Inada,Yoshihiko Saito,Ichizo Nishino,Yoshitaka Nagai

Neuromuscular Disorders（2022）

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摘要

•We found a novel mutation in MEGF10.•The patient had a late onset myopathy with respiratory failure.•Muscle CT showed low density in the limb and paraspinal muscles.•The biopsied muscle showed core-like structures.•Summary of the current and reported patients proved genotype-phenotype relationship.

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关键词

Respiratory failure,Literature review,Muscle CT,Muscle biopsy,Gene mutation,Myofibrillar myopathy

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