Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochon...

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Detaylı Bibliyografya
Asıl Yazarlar: Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs‐Telem, D, Lombes, A, Elpeleg, O
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2007
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652816/
https://ncbi.nlm.nih.gov/pubmed/17873122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.053116
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