Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

Human Genetics

Volumn 134, Issue 9, 2015, Pages 981-991

  Tetreault, Martine ^a   Fahiminiya, Somayyeh ^a   Antonicka, Hana ^b   Mitchell, Grant A ^c,d   Geraghty, Michael T ^e   Lines, Matthew ^e   Boycott, Kym M ^e   Shoubridge, Eric A ^a,b   Mitchell, John J ^f   Michaud, Jacques L ^c,d   Majewski, Jacek ^a  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ENOYL COENZYME A HYDRATASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; ENOYL COA HYDRATASE, SHORT CHAIN, 1, MITOCHONDRIAL, HUMAN; THIOL ESTER HYDROLASE;

ARTICLE; ATAXIA; BASAL GANGLION; BRAIN STEM; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; FAILURE TO THRIVE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GLOBUS PALLIDUS; HAPLOTYPE; HUMAN; LEIGH DISEASE; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PUTAMEN; RESPIRATORY CHAIN; SPASTICITY; BLOOD; CANADA; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EXOME; GENETICS; HETEROZYGOTE; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; AMINO ACID METABOLISM, INBORN ERRORS; CANADA; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENOYL-COA HYDRATASE; EXOME; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; THIOLESTER HYDROLASES;

EID: 84938965542     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1577-y     Document Type: Article

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