诊断线粒体 ,神经胃肠白质脑病需要 TYMP1, POLG1, LIG1 或 RRM2B 突变.
关键词: Lactic acidosis MNGIE Mitochondrial disorder TYMP1 Vomiting White matter lesions
Mesh : Humans Female Pakistan Mitochondrial Encephalomyopathies / diagnosis genetics Leukoencephalopathies / genetics Mutation Ribonucleotide Reductases / genetics Cell Cycle Proteins / genetics DNA Ligase ATP / genetics
来 源:
DOI:10.1186/s13256-023-03916-y
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