X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

Annals of Neurology

Volumn 61, Issue 1, 2007, Pages 73-83

  Fernandez Moreira, Daniel ^a   Ugalde, Cristina ^a   Smeets, Roel ^b   Rodenburg, Richard J T ^b   Lopez Laso, Eduardo ^c   Ruiz Falco, Maria L ^d   Briones, Paz ^e   Martin, Miguel A ^a   Smeitink, Jan A M ^b   Arenas, Joaquín ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^d HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^e CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEMIZYGOSITY; HUMAN; LEIGH DISEASE; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MYOCLONUS EPILEPSY; NDUFA1 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TWO DIMENSIONAL GEL ELECTROPHORESIS; X CHROMOSOME LINKAGE;

ANIMALS; ARGININE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; GENES, X-LINKED; GLYCINE; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; NADH DEHYDROGENASE; SEQUENCE ALIGNMENT; SERINE;

EID: 33846846449     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21036     Document Type: Article

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