Article
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
American journal of human genetics - 6 Oct 2016
Thompson Kyle, Majd Homa, Dallabona Cristina, Reinson Karit, King Martin S, Alston Charlotte L, He Langping, Lodi Tiziana, Jones Simon A, Fattal-Valevski Aviva, Fraenkel Nitay D, Saada Ann, Haham Alon, Isohanni Pirjo, Vara Roshni, Barbosa Inês A, Simpson Michael A, Deshpande Charu, Puusepp Sanna, Bonnen Penelope E, Rodenburg Richard J, Suomalainen Anu, Õunap Katrin, Elpeleg Orly, Ferrero Ileana, McFarland Robert, Kunji Edmund R S, Taylor Robert W
Abstract excerpt
Mutations 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...
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