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FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate g...
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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2008
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2556431/ https://ncbi.nlm.nih.gov/pubmed/18771761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.08.009 |
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