Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum-Reference-Cited by-同舟云学术

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Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum

Published:2017-03 Issue:3 Volume:39 Page:261-265
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Grosso Salvatore,Carluccio Maria Alessandra,Cardaioli Elena,Cerase Alfonso,Malandrini Alessandro,Romano Chiara,Federico Antonio,Dotti Maria Teresa

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. Mitochondriopathies;Finsterer;Eur J Neurol,2004

2. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings;Pitkanen;J Inherit Metab Dis,1996

3. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect;Robinson;Biochim Biophys Acta,1998

4. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder;Kirby;Neurology,1999

5. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects;Loeffen;Hum Mutat,2000

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