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Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx314
Abstract: Abstract Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like…
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Keywords:
rrna;
causes melas;
mrm2 causes;
melas like ... See more keywords