Leigh Syndrome Due to mtDNA Pathogenic Variants-Reference-Cited by-同舟云学术

Leigh Syndrome Due to mtDNA Pathogenic Variants

Published:2019 Issue: Volume:7 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Pereira Cristina¹,Souza Carolina Fischinger de²,Vedolin Leonardo³,Vairo Filippo⁴,Lorea Cláudia⁵,Sobreira Cláudia⁶,Nogueira Célia¹^ORCID,Vilarinho Laura⁷

Affiliation:

1. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

2. Hospital de Clinicas de Porto Alegre, Brazil

3. Department of Clinical Genomics, USA; DASA, Brazil

4. Department of Clinical Genomics, USA

5. Department of Clinical Genomics, USA; Universidade Federal de Pelotas, Brazil

6. Universidade de São Paulo, Brazil

7. Center for Individualized Medicine, USA

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://www.scielo.br/pdf/jiems/v7/2326-4594-jiems-7-e20180003.pdf

Reference43 articles.

1. Subacute necrotizing encephalomyelopathy in an infant;Leigh D;J Neurol Neurosurg Psychiatry,1951

2. Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency;Baertling F;Neurology,2013

3. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome;Naess K;Biochim Biophys Acta,2009

4. The genetics of Leigh Syndrome and its implications for clinical practice and risk management;Ruhoy IS;Appl Clin Genet,2014

5. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome;Nesbitt V;Dev Med Child Neurol,2012

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