A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked E1α gene

European Journal of Pediatrics

Volumn 164, Issue 2, 2005, Pages 99-103

  Tulinius, Már ^a   Darin, Niklas ^a   Wiklund, Lars Martin ^a   Holmberg, Eva ^a   Eriksson, Jan Erik ^b   Lissens, Willy ^c   De Meirleir, Linda ^c   Holme, Elisabeth ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b Skelleftea Hospital   (Sweden)

^c FREE UNIVERSITY OF BRUSSELS   (Belgium)

Author keywords

Children; Leigh syndrome; Pyruvate dehydrogenase complex deficiency; X linked pyruvate dehydrogenase subunit

Indexed keywords

ALANINE; CYTOSINE; GENE PRODUCT; LACTIC ACID; NUCLEOTIDE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVIC ACID; THYMINE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; DYSPHAGIA; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FAMILY STUDY; FEMALE; FOLLOW UP; GENE FUNCTION; GENE MUTATION; HUMAN; INHERITANCE; LEIGH DISEASE; MALE; MOLECULAR GENETICS; MUSCLE WEAKNESS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; THROMBOCYTE; X CHROMOSOME LINKAGE;

AMINO ACID SUBSTITUTION; BRAIN; CARNITINE; CHILD, PRESCHOOL; EXONS; HUMANS; INFANT; LACTIC ACID; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; PYRUVIC ACID; SIBLINGS;

EID: 14644406283     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1570-2     Document Type: Article

References (9)

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