Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. The mutations lead to undetectable levels of the MTFMT protein. Blue n...

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Detalles Bibliográficos
Autores principales: Neeve, Vivienne C.M., Pyle, Angela, Boczonadi, Veronika, Gomez-Duran, Aurora, Griffin, Helen, Santibanez-Koref, Mauro, Gaiser, Ulrike, Bauer, Peter, Tzschach, Andreas, Chinnery, Patrick F., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046648/
https://www.ncbi.nlm.nih.gov/pubmed/23499752
http://dx.doi.org/10.1016/j.mito.2013.03.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046648/
https://www.ncbi.nlm.nih.gov/pubmed/23499752
http://dx.doi.org/10.1016/j.mito.2013.03.002

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