TY  -  
T1  - Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number 
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UR  - http://hdl.handle.net/10138/168837 
T3  -  
A1  - Thompson, Kyle; Majd, Homa; Dallabona, Christina; 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, Ines A.; Simpson, Michael A.; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E.; Rodenburg, Richard J.; Suomalainen, Anu; Ounap, Katrin; Elpeleg, Orly; Ferrero, Ileana; McFarland, Robert; Kunji, Edmund R. S.; Taylor, Robert W. 
A2  -  
PB  -  
Y1  - 2016 
LA  - eng 
AB  - 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 identification by whole-exome sequencing of seven probands harboring dominant, de novo S... 
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KW  - ADENINE-NUCLEOTIDE TRANSLOCATOR; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; SUBSTRATE-BINDING SITE; ADP/ATP CARRIER; SACCHAROMYCES-CEREVISIAE; TRANSPORT MECHANISM; RESPIRATORY-CHAIN; ANT1 GENE; FUNCTIONAL-CHARACTERIZATION; BACTERIAL EXPRESSION; 3111 Biomedicine; 3123 Gynaecology and paediatrics; 3112 Neurosciences; 3124 Neurology and psychiatry 
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ER  -