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• W4238289660 abstract "(The American Journal of Human Genetics 99, 860–876; October 6, 2016) In the originally published version of this article, Cristina Dallabona’s first name was unfortunately misspelled. It appears correctly here and online. The authors regret the error. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberThompson et al.The American Journal of Human GeneticsSeptember 29, 2016In BriefMutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. Here, we describe the identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations. Full-Text PDF Open Access" @default.
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• W4238289660 date "2016-12-01" @default.
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• W4238289660 title "Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number" @default.
• W4238289660 doi "https://doi.org/10.1016/j.ajhg.2016.11.001" @default.
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