Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

Archives of Neurology

Volumn 62, Issue 4, 2005, Pages 659-661

  Martin, Miguel A ^a   Blázquez, Alberto ^a   Gutierrez Solana, Luis G ^b   Fernández Moreira, Daniel ^a   Briones, Paz ^d   Andreu, Antoni L ^e   Garesse, Rafael ^c   Campos, Yolanda ^a   Arenas, Joaquín ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d CSIC   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; LEIGH DISEASE; MALE; MITOCHONDRIAL COMPLEX I DEFICIENCY; MUSCLE EXAMINATION; NDUFAB1 GENE; NDUFS1 GENE; NDUFS2 GENE; NDUFS4 GENE; NDUFS6 GENE; NDUFS7 GENE; NDUFS8 GENE; NDUFV1 GENE; NORMAL HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BRAIN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; GENETIC SCREENING; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIA; MUSCLE, SKELETAL; MUTATION; NADH DEHYDROGENASE; SPAIN;

EID: 16844371604     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.4.659     Document Type: Article

References (17)

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