关键词: IBA57 Leukodystrophy MMDS Mitochondrial disorders
Mesh : Blotting, Western Brain / diagnostic imaging Brain Diseases / diagnosis genetics physiopathology Carrier Proteins / genetics metabolism Cohort Studies Female Fibroblasts / metabolism Follow-Up Studies Humans Infant Magnetic Resonance Imaging Male Mitochondria / metabolism Mutation Neurodegenerative Diseases / diagnosis genetics physiopathology Phenotype Protein Stability
来 源:
DOI:10.1007/s00415-016-8312-z
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