Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Molecular Genetics and Metabolism

Volumn 108, Issue 3, 2013, Pages 190-194

  Prasad, Chitra ^a   Melançon, Serge B ^b,c   Rupar, C Anthony ^a   Prasad, Asuri N ^a   Nunez, Laura Dempsey ^c   Rosenblatt, David S ^b,c   Majewski, Jacek ^b,c  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Cerebral; Exome sequencing; Liver; Renal and multisystem disease; TWINKLE

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BETA 2 MICROGLOBULIN; BILIRUBIN; FRUCTOSE BISPHOSPHATASE; LACTIC ACID; PYRUVIC ACID; SUCCINYLACETONE; TYROSINE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BETA 2 MICROGLOBULIN URINE LEVEL; BILIRUBIN BLOOD LEVEL; CASE REPORT; FEEDING DISORDER; FEMALE; GENE; GENE MUTATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HYPERBILIRUBINEMIA; HYPOGLYCEMIA; IRRITABILITY; JAUNDICE; KIDNEY TUBULE DISORDER; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LIVER BIOPSY; MALE; METABOLIC ACIDOSIS; MICROALBUMINURIA; MITOCHONDRIAL DNA DEPLETION SYNDROME; MULTIPLE ORGAN FAILURE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; TYROSINEMIA; URINALYSIS; VOMITING;

CONSANGUINITY; DNA HELICASES; DNA, MITOCHONDRIAL; EXOME; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; KIDNEY; LIVER; MALE; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION; PHENOTYPE; SIBLINGS;

EID: 84874020852     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.12.007     Document Type: Article

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