Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 902-906

  Spiegel, Ronen ^a,b   Saada, Ann ^c   Halvardson, Jonatan ^d   Soiferman, Devorah ^c   Shaag, Avraham ^c   Edvardson, Simon ^c   Horovitz, Yoseph ^a   Khayat, Morad ^b   Shalev, Stavit A ^b   Feuk, Lars ^d   Elpeleg, Orly ^c  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HAEMEK MEDICAL CENTER   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d SCIENCE FOR LIFE LABORATORY   (Sweden)

Author keywords

FDX1L gene; Fe S cluster; Metabolic myopathy; Respiratory chain

Indexed keywords

ACONITATE HYDRATASE; FERREDOXIN; FERREDOXIN II; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; MITOCHONDRIAL PROTEIN; RESPIRATORY COMPLEX II;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; ENZYME ACTIVITY; ENZYME ASSAY; EXOME; FEMALE; FIBROBLAST; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB WEAKNESS; METABOLIC DISORDER; MITOCHONDRIAL MYOPATHY; MUSCLE CRAMP; MUSCLE LEVEL; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOGLOBINURIA; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA TRANSLATION; TRANSLATION INITIATION SITE; CLINICAL TRIAL; GENETICS; METABOLISM; POINT MUTATION;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX II; EXOME; FEMALE; FERREDOXINS; HUMANS; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; POINT MUTATION;

EID: 84902314403     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.269     Document Type: Article

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