Variant: rs863224148 

    present in Gene: PDHA1
    present in Chromosome: X
    Position on Chromosome: 19350033
    Alleles of this Variant: C/T

rs863224148 in PDHA1 gene and Movement Disorders PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

rs863224148 in PDHA1 gene and Pyruvate Dehydrogenase E1 Alpha Deficiency PMID 7887409 1995 Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 20002125 2010 Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 1301207 1992 Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.