Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1α gene;Déficit de piruvato deshidrogenasa asociado a la mutación C515T en el exón 6 del gen E1α

Revista de Neurologia

Volumn 43, Issue 6, 2006, Pages 341-345

  Blanco Barca, O ^a   Gomez Lado C ^a   Rodrigo Saez E ^a   Curros Novo, C ^a   Briones Godino, P ^b   Eiris Punal J ^a   Castro Gago, M ^a,c  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c Instituto de Salud Carlos III   (Spain)

Author keywords

Agenesis of the corpus callosum; Brain malformations; C515T mutation; Mitochondrial respiratory chain; Pyruvate dehydrogenase

Indexed keywords

ALANINE; E1A PROTEIN; LACTIC ACID; NUCLEOTIDE; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; PYRUVATE DEHYDROGENASE E1ALPHA SUBUNIT;

ANTEVERTED NOSTRIL; ARTICLE; BLOOD CHEMISTRY; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; ENZYME DEFICIENCY; EXON; FEMALE; FIBROBLAST; FOREHEAD; GENE MUTATION; GENETIC POLYMORPHISM; HISTOPATHOLOGY; HUMAN; INFANT; LACTATE BLOOD LEVEL; LIP MALFORMATION; MICROCEPHALY; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN BLOOD LEVEL; PROTEIN CEREBROSPINAL FLUID LEVEL; PYRUVATE DEHYDROGENASE DEFICIENCY; SEIZURE; SPINE; UMBILICAL HERNIA; BRAIN; CONGENITAL MALFORMATION; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SKELETAL MUSCLE; X CHROMOSOME;

BRAIN; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; HUMANS; INFANT; MUSCLE, SKELETAL; PHENOTYPE; POINT MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 35348815056     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4306.2005444     Document Type: Article

References (36)

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