Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

  title={Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.},
  author={Louise Galmiche and Val{\'e}rie Serre and Marine Beinat and Zahra Assouline and A S Lebre and Dominique Chr{\'e}tien and Patrick Nietschke and Vladim{\'i}r Benes and Nathalie Boddaert and Daniel Sidi and Francis Brunelle and M. P. Vara-Del R{\'i}o and Arnold Munnich and Agn{\`e}s R{\"o}tig},
  journal={Human mutation},
  volume={32 11},
By combining exome sequencing in conjunction with genetic mapping, we have identified the first mutation in large mitochondrial ribosomal protein MRPL3 in a family of four sibs with hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency. Affected sibs were compound heterozygotes for a missense MRPL3 mutation (P317R) and a large-scale deletion, inherited from the mother and the father, respectively. These mutations were shown to alter ribosome assembly… CONTINUE READING
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