Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Human Molecular Genetics

Volumn 22, Issue 13, 2013, Pages 2590-2602

  Bolar, Nikhita Ajit ^a   Vanlander, Arnaud Vincent ^b   Wilbrecht, Claudia ^c   Van der Aa, Nathalie ^a   Smet, Joél ^b   De Paepe, Boel ^b   Vandeweyer, Geert ^a   Kooy, Frank ^a   Eyskens, François ^a   De Latter, Elien ^b   Delanghe, Gwenda ^d   Govaert, Paul ^d   Leroy, Jules Gerard ^b   Loeys, Bart ^a   Lill, Roland ^c,e,f   Laer, Lut Van ^a   Coster, Rudy Van ^b  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d Queen Paola Children's Hospital ZNA   (Belgium)

^e MAX PLANCK INSTITUTE FOR TERRESTRIAL MICROBIOLOGY   (Germany)

^f Offensive for the Development of Scientific and Economic Excellence of the State of Hesse LOEWE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOMETHYLTRANSFERASE; CYTOCHROME C OXIDASE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); IBA57 PROTEIN; IRON SULFUR PROTEIN; PROTEINASE INHIBITOR; THIOCTIC ACID; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; BRAIN DISEASE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 1; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERGLYCINEMIA; HYPERLACTATEMIA; MALE; MICROCEPHALY; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; MYOPATHY; NEWBORN; NEWBORN INTENSIVE CARE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DEPLETION; RESPIRATORY CHAIN; RESPIRATORY FAILURE; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SKIN FIBROBLAST;

BRAIN; BRAIN DISEASES; CARRIER PROTEINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; SIBLINGS; SKIN;

EID: 84878921567     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt107     Document Type: Article

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