Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs‐Telem, D, Lombes, A, Elpeleg, O
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2007
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !