Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: An automosal recessive syndrome in persian jews caused by a mutation in the PUS1 gene

Journal of Child Neurology

Volumn 20, Issue 5, 2005, Pages 449-452

  Zeharia, Avraham ^a   Fischel Ghodsian, Nathan ^b   Casas, Kari ^b   Bykhovskaya, Yelena ^b   Tamari, Hana ^a   Lev, Dorit ^c,d   Mimouni, Marc ^a   Lerman Sagie, Tally ^c,d  

^a Schneider Children's Medical of Israel ^*  (Israel)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c WOLFSON MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; CYTOSINE; MITOCHONDRIAL DNA; PSEUDOURIDINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RNA; SYNTHETASE; THYMINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FACE DYSMORPHIA; GENE MUTATION; GENE REARRANGEMENT; HOMOZYGOSITY; HUMAN; IRAN; JEW; LACTIC ACIDOSIS; MALE; MENTAL DEFICIENCY; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIDEROBLASTIC ANEMIA; SOUTHERN BLOTTING;

EID: 21044441973     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200051301     Document Type: Article

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