Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described, most frequently being maternally inherited diabetes and deafness (MIDD). The m.3243A > G mutation, can be detected in virtually all tissue...

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Detalles Bibliográficos
Autores principales: de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470685/
https://www.ncbi.nlm.nih.gov/pubmed/22403016
http://dx.doi.org/10.1007/s10545-012-9465-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470685/
https://www.ncbi.nlm.nih.gov/pubmed/22403016
http://dx.doi.org/10.1007/s10545-012-9465-2

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