MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 764-

  Nogueira, Célia ^a   de Souza, Carolina F M ^b   Husny, Antonette ^b   Derks, Terry G J ^c   Santorelli, Filippo M ^d   Vilarinho, Laura ^a  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRAZIL; CASE REPORT; CLINICAL FEATURE; DEATH; DNA DETERMINATION; GENE MUTATION; HUMAN; INFANT; LETTER; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; PRIORITY JOURNAL; SYMPTOM;

BRAZIL; DNA, MITOCHONDRIAL; FATAL OUTCOME; HEPATIC ENCEPHALOPATHY; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 84869885352     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.010     Document Type: Letter

References (4)

1. Suomalainen A., Isohanni P. Mitochondrial DNA depletion syndromes-many genes, common mechanisms. Neuromuscul. Disord. 2010, 20:429-437.
2. El-Hattab A.W., Scaglia F., Craigen W.J., Wong L.C. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. GeneReviews™, Seattle 2012, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
3. Rötig A., Poulton J. Genetic causes of mitochondrial DNA depletion in humans. Biochim. Biophys. Acta 2009, 1792:1103-1108.
4. El-Hattab A.W., Li F.Y., Schmitt E., Zhang S., Craigen W.J., Wong L.C. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol. Genet. Metab. 2010, 99:300-308.