Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies

OBJECTIVE—To evaluate the frequency of pathogenic mtDNA transfer RNA mutations and deletions in biochemically demonstrable respiratory chain (RC) deficiencies in paediatric and adult patients. 
METHODS—We screened for deletions and sequenced mitochondrial transfer RNA genes in skeletal muscle DNA fr...

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Detalhes bibliográficos
Main Authors: Jaksch, M., Kleinle, S., Scharfe, C., Klopstock, T., Pongratz, D., Muller-Hocker, J., Gerbitz, K., Liechti-Gallati, S., Lochmuller, H., Horvath, R.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734743/
https://ncbi.nlm.nih.gov/pubmed/11584044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.10.665
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