Septo-optic dysplasia associated with a new mitochondrialcytochrome b mutation-Reference-Cited by-同舟云学术

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Septo-optic dysplasia associated with a new mitochondrialcytochrome b mutation

Published:2002-03 Issue:3 Volume:51 Page:388-392
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Schuelke Markus,Krude Heiko,Finckh Barbara,Mayatepek Ertan,Janssen Antoon,Schmelz Michael,Trefz Friedrich,Trijbels Frans,Smeitink Jan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

2. Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?

3. Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

4. Clinical heterogeneity in respiratory chain complex III deficiency in childhood

5. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

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