載入...
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...
Na minha lista:
Main Authors: | , , , , , , , |
---|---|
格式: | Artigo |
語言: | Inglês |
出版: |
Elsevier
2008
|
主題: | |
在線閱讀: | 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 |
標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|