Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Human Mutation

Volumn 36, Issue 2, 2015, Pages 222-231

  Vanlander, Arnaud V ^a   Menten, Björn ^a   Smet, Joél ^a   De Meirleir, Linda ^b   Sante, Tom ^a   De Paepe, Boel ^a   Seneca, Sara ^c   Pearce, Sarah F ^d   Powell, Christopher A ^d   Vergult, Sarah ^a   Michotte, Alex ^b   De Latter, Elien ^a   Vantomme, Lies ^a   Minczuk, Michal ^d   Van Coster, Rudy ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c FREE UNIVERSITY OF BRUSSELS   (Belgium)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Combined oxidative phosphorylation deficiency; Mitochondria; Mitochondrial aminoacyl tRNA synthetase; NARS2

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; ASPARAGINYL TRNA SYNTHETASE; CITRATE SYNTHASE; CREATINE KINASE; CYTOCHROME C OXIDASE; MESSENGER RNA; MITOCHONDRIAL RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; UNCOUPLING PROTEIN 2; UNCOUPLING PROTEIN 3; ASPARTATE TRANSFER RNA LIGASE; ISOPROTEIN; NARS2 PROTEIN, HUMAN; RNA SPLICING;

ADULT; ALTERNATIVE RNA SPLICING; AMINOACYLATION; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHEMICAL ANALYSIS; CONSANGUINEOUS MARRIAGE; CREATINE KINASE BLOOD LEVEL; DYSARTHRIA; ENZYME ACTIVITY; EPSTEIN BARR VIRUS; EXOME; EXON; FACIAL NERVE PARALYSIS; FATIGUE; FEMALE; GENE MAPPING; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LYMPHOBLAST; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOPATHY; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; SIBLING; CELL CULTURE; CONSANGUINITY; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; METABOLISM; MUSCLE DISEASE; NUCLEOTIDE SEQUENCE; PROTEIN SYNTHESIS; RNA SPLICING;

HUMAN HERPESVIRUS 4;

ADULT; ASPARTATE-TRNA LIGASE; BASE SEQUENCE; CELLS, CULTURED; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MALE; MUSCULAR DISEASES; MUTATION, MISSENSE; PROTEIN BIOSYNTHESIS; PROTEIN ISOFORMS; RNA SPLICE SITES;

EID: 84922055818     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22728     Document Type: Article

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