Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

European Journal of Human Genetics

Volumn 22, Issue 2, 2014, Pages 184-191

  Uusimaa, Johanna ^a,b   Evans, Julie ^c   Smith, Conrad ^c   Butterworth, Anna ^d   Craig, Kate ^d   Ashley, Neil ^a   Liao, Chunyan ^a   Carver, Janet ^a   Diot, Alan ^a   Macleod, Lorna ^a   Hargreaves, Iain ^e   Al Hussaini, Abdulrahman ^f   Faqeih, Eissa ^f   Asery, Ali ^f   Al Balwi, Mohammed ^g   Eyaid, Wafaa ^h   Al Sunaid, Areej ^h   Kelly, Deirdre ⁱ   Van Mourik, Indra ⁱ   Ball, Sarah ⁱ   Jarvis, Joanna ^j   Mulay, Arundhati ^k   Hadzic, Nedim ^l   Samyn, Marianne ^l   Baker, Alastair ^m   Rahman, Shamima ^c   Stewart, Helen ^c   Morris, Andrew A M ⁿ   Seller, Anneke ^c   Fratter, Carl ^c   Taylor, Robert W ^d   Poulton, Joanna ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OULU   (Finland)

^c OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f King Fahad Mobile Hospital   (Saudi Arabia)

^g King Abdulaziz Medical ^*  (Saudi Arabia)

^h KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

ⁱ BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^j BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^k MANOR HOSPITAL   (United Kingdom)

^l KING S COLLEGE HOSPITAL   (United Kingdom)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ ST MARY S HOSPITAL   (United Kingdom)

more..

Author keywords

hepatocerebral disease; mitochondrial DNA depletion; MPV17; neonatal liver disease

Indexed keywords

AMINO ACID; LACTIC ACID; MITOCHONDRIAL DNA; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; MPV17 PROTEIN, HUMAN; STOP CODON;

AMINO ACID BLOOD LEVEL; ARTICLE; ASIAN; BRAIN INFARCTION; CAUCASIAN; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; EXON; FEEDING DISORDER; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; HYPOPARATHYROIDISM; INFANT; LACTATE BLOOD LEVEL; LEUKODYSTROPHY; LIVER DISEASE; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL MEMBRANE POTENTIAL; MOLECULAR GENETICS; MOSAICISM; MPV17 GENE; MUSCLE HYPOTONIA; MUSCLE TISSUE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRIC SURGERY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; WEIGHT GAIN; WHITE MATTER; CASE CONTROL STUDY; CELL CULTURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE DOSAGE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MISSENSE MUTATION; MITOCHONDRIAL GENE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; STOP CODON;

CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; GENE DOSAGE; GENES, MITOCHONDRIAL; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; POINT MUTATION;

EID: 84892821769     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.112     Document Type: Article

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