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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs‐Telem, D, Lombes, A, Elpeleg, O
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Short Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky