Variant: rs752513525

present in Gene: NDUFA13 present in Chromosome: 19 Position on Chromosome: 19526257 Alleles of this Variant: G/A;T

rs752513525 in NDUFA13 gene and Dyskinetic syndrome PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

rs752513525 in NDUFA13 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.