MYH2-associated myopathy caused by a novel splice-site variant

Thomas A. Cassini,May Christine V. Malicdan,Ellen F. Macnamara,Tanya Lehky,Iren Horkayne-Szalaky,Yan Huang, Robert Jones,Rena Godfrey,Lynne Wolfe,William A Gahl,Camilo Toro

Neuromuscular Disorders（2023）

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摘要

•Three individuals with myopathy and a novel MYH2 splice-site variant.•Myopathy had autosomal dominant inheritance in a large four-generation pedigree.•EMG, muscle MRI, and muscle biopsy consistent with MYH2-associated myopathy.•RNAseq on fibroblasts demonstrated that the variant alters splicing.•Lack of ophthalmoplegia and congenital contractures expands the phenotype.

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关键词

Myopathy,MYH2,RNAseq,Splice-site,Undiagnosed diseases program

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