POLG1 变体最多可以引起 MNGIE 样 , 但不是经典的 MNGIE 表型。
关键词: MNGIE Mitochondrial MtDNA depletion POLG1 Vomiting
Mesh : Humans DNA Polymerase gamma / genetics Phenotype Intestinal Pseudo-Obstruction / genetics Ophthalmoplegia DNA, Mitochondrial / genetics Mutation / genetics Mitochondrial Encephalomyopathies / genetics Muscular Dystrophy, Oculopharyngeal
来 源: DOI:10.1016/j.clineuro.2023.108069