Leigh's disease due to a new mutation in the PDHX gene

Annals of Neurology

Volumn 59, Issue 4, 2006, Pages 709-714

  Schiff, Manuel ^a   Miné, Manuele ^b   Brivet, Michèle ^b   Marsac, Cécile ^c   Elmaleh Bergés, Monique ^a   Evrard, Philippe ^a   Ogier De Baulny, Hélène ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b BICÊTRE HOSPITAL   (France)

^c Faculte de Medecine Necker   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; GENE PRODUCT; GLYCOPROTEIN E3; LACTIC ACID; PYRUVATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BASAL GANGLION; BODY FLUID; BRAIN DISEASE; BRAIN NECROSIS; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENE; GENE DELETION; GENE FUNCTION; HUMAN; IMMUNOBLOTTING; LEIGH DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PDHX GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SKIN FIBROBLAST; WHITE MATTER;

ADOLESCENT; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LEIGH DISEASE; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MUTATION; PYRUVATE DEHYDROGENASE COMPLEX; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; REVIEW LITERATURE; RNA, MESSENGER;

EID: 33645754908     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20818     Document Type: Article

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