A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder. Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscl...

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Detalhes bibliográficos
Main Authors: Jonckheere, An I, Hogeveen, Marije, Nijtmans, Leo, van den Brand, Mariel, Janssen, Antoon, Diepstra, Heleen, van den Brandt, Frans, van den Heuvel, Bert, Hol, Frans, Hofste, Tom, Kapusta, Livia, Dillmann, U, Shamdeen, M, Smeitink, J, Rodenburg, Richard
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027703/
https://ncbi.nlm.nih.gov/pubmed/21686774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.07.2008.0504
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