Variant: rs137853252 

    present in Gene: PDHA1
    present in Chromosome: X
    Position on Chromosome: 19358920
    Alleles of this Variant: C/T

rs137853252 in PDHA1 gene and Muscle hypotonia PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

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

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

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial 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 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

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

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

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

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

rs137853252 in PDHA1 gene and Pyruvate Dehydrogenase E1 Alpha Deficiency PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

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 8199595 1994 Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

PMID 9671272 1998 Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.

PMID 8504306 1993 Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

PMID 9266390 1997 Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

PMID 8844217 1996 Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).

PMID 1551669 1992 Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

PMID 7573035 1995 An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

PMID 26865159 2016 Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

PMID 7545958 1994 Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

PMID 7967473 1994 Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.

PMID 20002461 2010 Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

PMID 21846590 2011 Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.

PMID 8664900 1996 Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

PMID 1909401 1991 Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

PMID 1293379 1992 X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.

PMID 8032855 1994 Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

PMID 1338114 1992 Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

PMID 8498846 1993 Molecular genetic characterization of an X-linked form of Leigh's syndrome.

PMID 7757088 1995 Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.