Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency: The chaperon-like effect of vitamin B2

Mitochondrion

Volumn 18, Issue , 2014, Pages 49-57

  Carrozzo, Rosalba ^a   Torraco, Alessandra ^a   Fiermonte, Giuseppe ^b   Martinelli, Diego ^a   Di Nottia, Michela ^a   Rizza, Teresa ^a   Vozza, Angelo ^b   Verrigni, Daniela ^a   Diodato, Daria ^a   Parisi, Giovanni ^b   Maiorana, Arianna ^a   Rizzo, Cristiano ^a   Pierri, Ciro Leonardo ^b   Zucano, Stefania ^b   Piemonte, Fiorella ^a   Bertini, Enrico ^a   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF BARI   (Italy)

Author keywords

Branched chain amino acids; Chaperon; Dihydrolipoamide dehydrogenase deficiency; Mitochondrial myopathy; Riboflavin; Keto acids

Indexed keywords

CHAPERONE; CREATINE KINASE; DIHYDROLIPOAMIDE DEHYDROGENASE; LACTIC ACID; RIBOFLAVIN; VITAMIN B COMPLEX;

'DLD GENE; ACIDURIA; ADULT; AMINOACIDURIA; ARTICLE; CASE REPORT; CELL PROLIFERATION; CROSS REACTION; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DISEASE COURSE; ENZYME DEFICIENCY; EXERCISE TOLERANCE; FATIGUE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KETOACIDOSIS; LACTATE BLOOD LEVEL; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; ORGANIC ACIDURIA; PAIN; PHENOTYPE; TREATMENT RESPONSE; VITAMIN SUPPLEMENTATION; ACIDOSIS, LACTIC; BIOPSY; COMPLICATION; DRUG EFFECTS; GENE EXPRESSION; MAPLE SYRUP URINE DISEASE; MITOCHONDRIAL MYOPATHIES; MUSCLE; PATHOLOGY; PROTEIN STABILITY; YOUNG ADULT;

ACIDOSIS, LACTIC; BIOPSY; GENE EXPRESSION; HUMANS; MALE; MAPLE SYRUP URINE DISEASE; MITOCHONDRIAL MYOPATHIES; MUSCLES; PHENOTYPE; PROTEIN STABILITY; RIBOFLAVIN; VITAMIN B COMPLEX; YOUNG ADULT;

EID: 84908377691     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2014.09.006     Document Type: Article

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