Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 358-361

  Mayr, Johannes A ^a   Bodamer, Olaf ^a,b   Haack, Tobias B ^c,d   Zimmermann, Franz A ^a   Madignier, Florence ^c,d   Prokisch, Holger ^c,d   Rauscher, Christian ^a   Koch, Johannes ^a   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

Complex I; Mitochondrial energy metabolism; NDUFA1; Respiratory chain; X inactivation

Indexed keywords

3 HYDROXYBUTYRIC ACID; ACETOACETIC ACID; CHROMOSOME PROTEIN; CITRATE SYNTHASE; COMPLEMENTARY DNA; MESSENGER RNA; NDUFA1 PROTEIN; UNCLASSIFIED DRUG;

ALKALOSIS; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; CHROMOSOME MUTATION; COMPLEX I DEFICIENCY; CONTROLLED STUDY; EXERCISE TOLERANCE; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; INHERITANCE; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEQUENCE ANALYSIS; SOMNOLENCE; UPPER RESPIRATORY TRACT INFECTION; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ELECTRON TRANSPORT COMPLEX I; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; INFANT; MUTATION; NADH DEHYDROGENASE; RNA, MESSENGER;

EID: 79960840145     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.010     Document Type: Article

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