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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/1034

Title: Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis
Authors: Nogueira, Célia
Carrozzo, Rosalba
Vilarinho, Laura
Santorelli, Filippo
Keywords: mtDNA
OXPHOS
DNA Replication
Mitochondrial DNA Depletion Syndrome
Doenças Genéticas
Issue Date: 13-May-2011
Publisher: SAGE
Citation: J Child Neurol. 2011 Jul;26(7):866-75. Epub 2011 May 13
Abstract: Most inherited mitochondrial diseases in infants result from mutations in nuclear genes encoding proteins with specific functions targeted to the mitochondria rather than primary mutations in the mitochondrial DNA (mtDNA) itself. In the past decade, a growing number of syndromes associated with dysfunction resulting from tissue-specific depletion of mtDNA have been reported in infants. MtDNA depletion syndrome is transmitted as an autosomal recessive trait and causes respiratory chain dysfunction with prominent neurological, muscular, and hepatic involvement. Mendelian diseases characterized by defective mitochondrial protein synthesis and combined respiratory chain defects have also been described in infants and are associated with mutations in nuclear genes that encode components of the translational machinery. In the present work, we reviewed current knowledge of clinical phenotypes, their relative frequency, spectrum of mutations, and possible pathogenic mechanisms responsible for infantile disorders of oxidative metabolism involved in correct mtDNA maintenance and protein production.
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/1034
ISSN: 0883-0738
Publisher version: http://jcn.sagepub.com/content/early/2011/05/06/0883073811402072
Appears in Collections:DGH - Artigos em revistas internacionais

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