Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Human mutation - 1 Nov 2011
Galmiche Louise, Serre Valérie, Beinat Marine, Assouline Zahra, Lebre Anne-Sophie, Chretien Dominique, Nietschke Patrick, Benes Vladimir, Boddaert Nathalie, Sidi Daniel, Brunelle Francis, Rio Marlène, Munnich Arnold, Rötig Agnès
Abstract excerpt
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...
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