与 NDUFV1 复合杂合突变相关的弥漫性脑白质营养不良的新家族性病例。
关键词: CI Diffuse leukodystrophy Genetics MD Mitochondrial disease NDUFV1 mutations NMD complex I mitochondrial respiratory chain disorders nonsense-mediated decay
Mesh : Amino Acid Sequence Child, Preschool Electron Transport Complex I Energy Metabolism Heterozygote Humans Magnetic Resonance Imaging Male Mitochondrial Diseases / genetics Molecular Sequence Data Mutation, Missense NADH Dehydrogenase / chemistry genetics
来 源:
DOI:10.1016/j.mito.2013.03.010
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