Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein

We report a novel pathogenic mutation in DYSF gene with Miyoshi myopathy and demonstrate this variant causes skipping of exon15 by minigene splicing assay. We point out the need of conducting functional analysis to verify the pathogenicity of intronic mutation. The finding enriches the mutation spectrum of DYSF gene and laid a foundation for future studies on the correlation between genotype and phenotype.PMID:38381504 | DOI:10.1016/j.gene.2023.147929

Source: Gene - February 21, 2024 Category: Genetics & Stem Cells Authors: Jinyi Zhou Rui Zhou Qihua Feng Xiaoxiang Song Xuqin Chen Source Type: research