Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy

Brain

Volumn 132, Issue 8, 2009, Pages 2170-2179

  Kollberg, Gittan ^a   Tulinius, Mr ^b   Melberg, Atle ^c   Darin, Niklas ^b   Andersen, Oluf ^a   Holmgren, Daniel ^b   Oldfors, Anders ^a   Holme, Elisabeth ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Aconitase deficiency; FeS cluster deficiency; ISCU; Mitochondrial myopathy; Pseudoexon

Indexed keywords

ACONITATE HYDRATASE; CITRATE SYNTHASE; CYTOCHROME B5 REDUCTASE; CYTOCHROME C OXIDASE; GENOMIC DNA; GLUTAMIC ACID; GLYCINE; IRON; IRON SULFUR PROTEIN; MESSENGER RNA; MITOCHONDRIAL PROTEIN; PROTEIN ISCU; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX II DEFICIENCY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DNA ISOLATION; EXERCISE TOLERANCE; FEMALE; FIBROBLAST CULTURE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IRON BALANCE; IRON SULFUR CLUSTER DEFICIENCY MYOPATHY; ISCU GENE; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENE; MITOCHONDRIAL MYOPATHY; MOLECULAR CLONING; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POLAROGRAPHY; PRIORITY JOURNAL; PROTEIN FUNCTION; RECESSIVE GENE; RECESSIVE INHERITANCE; RESPIRATORY CHAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SPLICING DEFECT; SWEDEN; WESTERN BLOTTING;

ACONITATE HYDRATASE; ADOLESCENT; ADULT; AGED; BASE SEQUENCE; BIOPSY; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; IRON-SULFUR PROTEINS; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 67749084367     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp152     Document Type: Article

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