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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Bibliografske podrobnosti
Main Authors: Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs‐Telem, D, Lombes, A, Elpeleg, O
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2007
Teme:
Short Report
Online dostop: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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