Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference60 articles.
1. Cardiomyopathies in disorders of oxidative metabolism
2. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers
3. Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency
4. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
5. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
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