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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: A767D
cDNA Position: 2300 c→a (exon 14)
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Disease | Genetics | Frequency | Reference |
Alpers | Found as compound in trans with G737R | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
Epilepsy | Found with G737R in a 1 y.o. male. Patient also had myopathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. | (Sitarz et al., 2014) PubMed |