MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1501-1509

  Baruffini, Enrico ^a   Dallabona, Cristina ^a   Invernizzi, Federica ^b   Yarham, John W ^c   Melchionda, Laura ^b   Blakely, Emma L ^c   Lamantea, Eleonora ^b   Donnini, Claudia ^a   Santra, Saikat ^d   Vijayaraghavan, Suresh ^d   Roper, Helen P ^e   Burlina, Alberto ^f   Kopajtich, Robert ^g,h   Walther, Anett ^g,h   Strom, Tim M ^g,h   Haack, Tobias B ^g,h   Prokisch, Holger ^g,h   Taylor, Robert W ^c   Ferrero, Ileana ^a   Zeviani, Massimo ⁱ   Ghezzi, Daniele ^b   more..

^a UNIVERSITY OF PARMA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Hypertrophic cardiomyopathy; Lactic acidosis; Mitochondrial disorder; MTO1; Yeast

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RNA; TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EXOME; FEMALE; GENE; GENE FUNCTION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LACTIC ACIDOSIS; MALE; MISSENSE MUTATION; MITOCHONDRIAL RESPIRATORY CHAIN DEFICIENCY; MTO1 GENE; MUTANT; NEWBORN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SCHOOL CHILD;

HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; MITOCHONDRIAL DISORDER; MTO1; YEAST;

ACIDOSIS, LACTIC; ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; BRAIN; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; YEASTS; YOUNG ADULT;

EID: 84885434357     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22393     Document Type: Article

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