Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 394-399

  Smits, Paulien ^a   Saada, Ann ^b   Wortmann, Saskia B ^a   Heister, Angelien J ^a   Brink, Maaike ^a   Pfundt, Rolph ^a   Miller, Chaya ^b   Haas, Dorothea ^c   Hantschmann, Ralph ^d   Rodenburg, Richard J T ^a   Smeitink, Jan A M ^a   Van Den Heuvel, Lambert P ^a,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d Kinderneurologisches Zentrum SPZ   (Germany)

^e Department of Pediatrics   (Belgium)

Author keywords

combined OXPHOS deficiency; Cornelia de Lange like phenotype; mitochondrial translation; MRPS22

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RIBOSOMAL PROTEIN MRPS22; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOSOME PROTEIN; RIBOSOME RNA; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CLINICAL FEATURE; DE LANGE SYNDROME; FIBROBLAST; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SEQUENCE ANALYSIS;

BRAIN; CARDIOMYOPATHY, HYPERTROPHIC; CELLS, CULTURED; CHILD, PRESCHOOL; DE LANGE SYNDROME; DNA COPY NUMBER VARIATIONS; HUMANS; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; PHENOTYPE; RIBOSOMAL PROTEINS;

EID: 79952745016     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.214     Document Type: Article

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