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Article

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Annals of neurology - 1 Nov 2004

Miller Chaya, Saada Ann, Shaul Nava, Shabtai Naama, Ben-Shalom Efrat, Shaag Avraham, Hershkovitz Eli, Elpeleg Orly

Abstract excerpt

The mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear-encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly...

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Source

Identifiers

PMID: 15505824
DOI: 10.1002/ana.20282

Genes

MRPS16

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.PMID 15505824Read ↗

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