Mitochondrial DNA Point Mutation T9176C in Leigh Syndrome
Author:
Affiliation:
1. Metabolic Unit Great Ormond Street Hospital for Children,
2. Neurogenetics Section, Institute of Neurology
3. Shamima Rahman, FRCP Institute of Child Health London, UK
Abstract
Publisher
SAGE Publications
Subject
Clinical Neurology,Pediatrics, Perinatology, and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/088307380001501218
Reference13 articles.
1. Shoffner JM, Wallace DC: Oxidative phosphorylation diseases, in Scriver CR, Beaudet Al, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill, 1995, 1535-1587.
2. Leigh syndrome: Clinical features and biochemical and DNA abnormalities
3. Deficiency of respiratory chain complex I is a common cause of leigh disease
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