Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

American Journal of Human Genetics

Volumn 82, Issue 3, 2008, Pages 652-660

  Mochel, Fanny ^a   Knight, Melanie A ^a   Tong, Wing Hang ^b   Hernandez, Dena ^c   Ayyad, Karen ^d   Taivassalo, Tanja ^e   Andersen, Peter M ^f   Singleton, Andrew ^c   Rouault, Tracey A ^b   Fischbeck, Kenneth H ^a   Haller, Ronald G ^d,g,h  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d EAST TEXAS MEDICAL CENTER   (United States)

^e MCGILL UNIVERSITY   (Canada)

^f UMEÅ UNIVERSITY HOSPITAL   (Sweden)

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

^h PRESBYTERIAN HOSPITAL OF DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FERROPORTIN 1; FRATAXIN; IRON SULFUR PROTEIN; ACONITATE HYDRATASE; ISCU PROTEIN, HUMAN; MESSENGER RNA; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXERCISE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MYOPATHY; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SEQUENCE; ENZYMOLOGY; EXERCISE TOLERANCE; GENETICS; HOMOZYGOTE; METABOLISM; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SWEDEN;

ACONITATE HYDRATASE; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXERCISE TOLERANCE; HOMOZYGOTE; HUMANS; IRON-SULFUR PROTEINS; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; RNA, MESSENGER; SUCCINATE DEHYDROGENASE; SWEDEN;

EID: 41149169596     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.12.012     Document Type: Article

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