An RMND1 mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

American Journal of Human Genetics

Volumn 91, Issue 4, 2012, Pages 737-743

  Janer, Alexandre ^a,b   Antonicka, Hana ^b   Lalonde, Emilie ^a   Nishimura, Tamiko ^b   Sasarman, Florin ^b   Brown, Garry K ^c   Brown, Ruth M ^c   Majewski, Jacek ^a   Shoubridge, Eric A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MEMBRANE PROTEIN; MITOCHONDRIAL DNA; SMALL INTERFERING RNA;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; FATALITY; FEMALE; FIBROBLAST; GEL FILTRATION; GENE; GENE MUTATION; HUMAN; IMMUNOBLOTTING; INFANT; INTRACTABLE EPILEPSY; LACTIC ACIDOSIS; MASS SPECTROMETRY; MISSENSE MUTATION; MITOCHONDRION; MOLECULAR WEIGHT; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; REQUIRED FOR MEIOTIC NUCLEAR DIVISION 1 GENE; RIBOSOME;

CELL CYCLE PROTEINS; CONSANGUINITY; DNA, MITOCHONDRIAL; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PHENOTYPE; PROTEIN BIOSYNTHESIS; PROTEIN INTERACTION DOMAINS AND MOTIFS; RIBOSOMES; SPASMS, INFANTILE;

EID: 84867252179     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.020     Document Type: Article

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