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

@inproceedings{Neeve2013ClinicalAF,
  title={Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT},
  author={Vivienne C. M. Neeve and Angela Pyle and Veronika Boczonadi and Aurora Gomez-Duran and Helen R. Griffin and Mauro F. Santibanez-Koref and Ulrike Gaiser and Peter Bauer and Andreas Tzschach and Patrick F. Chinnery and Rita Horvath},
  booktitle={Mitochondrion},
  year={2013}
}
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 native polyacrylamide gel electrophoresis showed decreased complexes I and IV, and additional products stained with complex V antibodies, however the overall steady state level of mt-tRNA(Met) was… CONTINUE READING

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