Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

American Journal of Human Genetics

Volumn 99, Issue 4, 2016, Pages 860-876

  Thompson, Kyle ^a   Majd, Homa ^b   Dallabona, Christina ^c   Reinson, Karit ^d,e   King, Martin S ^b   Alston, Charlotte L ^a   He, Langping ^a   Lodi, Tiziana ^c   Jones, Simon A ^f   Fattal Valevski, Aviva ^g   Fraenkel, Nitay D ^h   Saada, Ann ⁱ   Haham, Alon ^j   Isohanni, Pirjo ^k,l   Vara, Roshni ^m   Barbosa, Inês A ⁿ   Simpson, Michael A ⁿ   Deshpande, Charu ^o   Puusepp, Sanna ^d,e   Bonnen, Penelope E ^p   Rodenburg, Richard J ^q   Suomalainen, Anu ^k,r   Õunap, Katrin ^d,e   Elpeleg, Orly ⁱ   Ferrero, Ileana ^c   McFarland, Robert ^a   Kunji, Edmund R S ^b   Taylor, Robert W ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF TARTU   (Estonia)

^e TARTU UNIVERSITY HOSPITAL   (Estonia)

^f MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^g TEL AVIV UNIVERSITY   (Israel)

^h Alyn Orthopaedic Hospital and Rehabilitation Centre for Physically Handicapped Children Israel   (Israel)

ⁱ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^j LIS MATERNITY HOSPITAL   (Israel)

^k UNIVERSITY OF HELSINKI   (Finland)

^l UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^m EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

^o GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^p BAYLOR COLLEGE OF MEDICINE   (United States)

^q RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^r HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; MUTANT PROTEIN; PROTEIN AAC1; UNCLASSIFIED DRUG; ADENINE NUCLEOTIDE TRANSLOCASE; ARYLAMINE ACETYLTRANSFERASE; ISOENZYME; N-ACETYLTRANSFERASE 1; SLC25A4 PROTEIN, HUMAN;

ARTICLE; ASSISTED VENTILATION; CELL ENERGY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; INFANT; MALE; MITOCHONDRIAL RESPIRATORY CHAIN DEFICIENCY; MOLECULAR GENETICS; ONSET AGE; PRIORITY JOURNAL; SKELETAL MUSCLE; SLC25A4 GENE; CASE REPORT; CHILD; DOMINANT GENE; ELECTRON TRANSPORT; GENETICS; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; AGE OF ONSET; ARYLAMINE N-ACETYLTRANSFERASE; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; EXOME; FEMALE; GENES, DOMINANT; HUMANS; INFANT; INFANT, NEWBORN; ISOENZYMES; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION;

EID: 84991735971     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.08.014     Document Type: Article

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