Bi-allelic LETM1 Variants Perturb Mitochondrial Ion Homeostasis Leading to a Clinical Spectrum with Predominant Nervous System Involvement
The American Journal of Human Genetics（2022）
关键词
mitochondria,LETM1,mitochondrial diseases,neurodegeneration,Wolf-Hirschhorn syndrome,genetics,neurology,oxidative phosphorylation,potassium transport,volume homeostasis
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