关键词: Leukodystrophy Multiple mitochondrial dysfunction syndrome Spastic quadriparesis White matter rarefaction
Mesh : Alleles Brain / diagnostic imaging Child DNA, Mitochondrial / genetics Exome Genetic Association Studies Genetic Variation Heterozygote Humans Iron-Sulfur Proteins / genetics Leukoencephalopathies / genetics Magnetic Resonance Imaging / methods Male Mitochondrial Diseases / genetics Mutation Phenotype
来 源:
DOI:10.1007/s10048-020-00611-8
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