A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
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| Description | scientific article published on 2 November 2012 |
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author: Leo G J Nijtmans Radek Szklarczyk Richard J Rodenburg Joris A Veltman Peter H Willems Martijn A Huynen Christian Gilissen |
| Publication date | November 2, 2012 |
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