Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations

Human Mutation

Volumn 21, Issue 6, 2003, Pages 598-607

  Spiekerkoetter, Ute ^a,b   Sun, Bin ^a   Khuchua, Zaza ^a   Bennett, Michael J ^c   Strauss, Arnold W ^a  

^a MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Cardiomyopathy; Fatty acid oxidation; HADHA; HADHB; LCHAD; MTP; Myoglobinuria; Neuropathy; Reye syndrome; TFP

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ENOYL COENZYME A HYDRATASE; FATTY ACID; GENOMIC DNA; MESSENGER RNA; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME SUBUNIT; FATTY ACID OXIDATION; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENOTYPE; HELLP SYNDROME; HUMAN; HUMAN CELL; HYPOGLYCEMIA; IMMUNOBLOTTING; INFANT; MALE; MITOCHONDRION; MYOGLOBINURIA; MYOPATHY; NEUROPATHY; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REYE SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; PHENOTYPE; PROTEIN SUBUNITS; SACCHAROMYCES CEREVISIAE; SYNDROME;

EID: 0037903252     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10211     Document Type: Article

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