Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 76-83

  Ivanov, Ivan S ^a   Azmanov, Dimitar N ^b,c   Ivanova, Mariya B ^d   Chamova, Teodora ^d   Pacheva, Ilyana H ^a   Panova, Margarita V ^a   Song, Sharon ^e   Morar, Bharti ^b   Yordanova, Ralitsa V ^a   Galabova, Fani K ^a   Sotkova, Iglika G ^a   Linev, Alexandar J ^a   Bitchev, Stoyan ^d   Shearwood, Anne Marie J ^b   Kancheva, Dalia ^d,f   Gabrikova, Dana ^g   Karcagi, Veronika ^h   Guergueltcheva, Velina ^d   Geneva, Ina E ^a   Bozhinova, Veneta ^d   Stoyanova, Vili K ^a   Kremensky, Ivo ^d   Jordanova, Albena ^d,f   Savov, Aleksey ^d   Horvath, Rita ⁱ   Brown, Matthew A ^e   Tournev, Ivailo ^d,j   Filipovska, Aleksandra ^b   Kalaydjieva, Luba ^b   more..

^a MEDICAL UNIVERSITY OF PLOVDIV   (Bulgaria)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c Department of Diagnostic Genomics ^*  (Australia)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY OF PRE OV   (Slovakia)

^h NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j NEW BULGARIAN UNIVERSITY   (Bulgaria)

more..

Author keywords

Congenital lactic acidosis; PDHX; Roma Gypsy founder mutation

Indexed keywords

ALANINE; BUTYRIC ACID; LACTIC ACID; CODON; PDHX PROTEIN, HUMAN; PYRUVATE DEHYDROGENASE COMPLEX;

APNEA; ARTICLE; ATAXIA; BODY DYSMORPHIC DISORDER; BRAIN DISEASE; BULGARIA; CEREBRAL PALSY; CLINICAL ARTICLE; CLINICAL FEATURE; COMA; CONTROLLED STUDY; CORPUS CALLOSUM; DISEASE COURSE; ETHNIC GROUP; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GROWTH DISORDER; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUNGARY; HYPERLACTATEMIA; INFANCY; INFANT; INTRAUTERINE GROWTH RETARDATION; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEWBORN; PAROXYSMAL DYSTONIA; PDHX GENE; PHENOTYPE; PSYCHOMOTOR DEVELOPMENT; RECURRENT DISEASE; ROMANI (PEOPLE); ROMANIA; SEIZURE; SLOVAKIA; SOMNOLENCE; SPASTICITY; STUPOR; URINALYSIS; URINARY EXCRETION; VOMITING; ACIDOSIS, LACTIC; ADOLESCENT; CHILD; CODON; CONSANGUINITY; FOUNDER EFFECT; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ACIDOSIS, LACTIC; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CODON; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PYRUVATE DEHYDROGENASE COMPLEX; ROMANIA; SLOVAKIA;

EID: 84908513714     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.017     Document Type: Article

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