Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy-Reference-Cited by-同舟云学术

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Published:2012-09 Issue:5 Volume:16 Page:542-548
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Scalais Emmanuel,Francois Baudouin,Schlesser Patrick,Stevens Rene,Nuttin Christian,Martin Jean-Jacques,Van Coster Rudy,Seneca Sara,Roels Frank,Van Goethem Gert,Löfgren Ann,De Meirleir Linda

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases;Moraes;Am J Hum Genet,1991

2. POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion;Naviaux;Ann Neurol,2004

3. POLG mutations and Alpers syndrome;Davidzon;Ann Neurol,2005

4. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations;de Vries;Eur J Pediatr,2007

5. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA;Ferrari;Brain,2005

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