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The disease has been associated with five major phenotypes, but a genotype\u2013phenotype correlation is unclear. Here, we compare two mouse models with a genetic modification in\n                    <jats:italic>Coq9<\/jats:italic>\n                    gene (\n                    <jats:italic>Coq9<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q95X<\/jats:italic>\n                    <\/jats:sup>\n                    and\n                    <jats:italic>Coq9<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R239X<\/jats:italic>\n                    <\/jats:sup>\n                    ), and their responses to 2,4\u2010dihydroxybenzoic acid (2,4\u2010diHB).\n                    <jats:italic>Coq9<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R239X<\/jats:italic>\n                    <\/jats:sup>\n                    mice manifest severe widespread CoQ deficiency associated with fatal encephalomyopathy and respond to 2,4\u2010diHB increasing CoQ levels. In contrast,\n                    <jats:italic>Coq9<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q95X<\/jats:italic>\n                    <\/jats:sup>\n                    mice exhibit mild CoQ deficiency manifesting with reduction in CI+III activity and mitochondrial respiration in skeletal muscle, and late\u2010onset mild mitochondrial myopathy, which does not respond to 2,4\u2010diHB. We show that these differences are due to the levels of COQ biosynthetic proteins, suggesting that the presence of a truncated version of COQ9 protein in\n                    <jats:italic>Coq9<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R239X<\/jats:italic>\n                    <\/jats:sup>\n                    mice destabilizes the CoQ multiprotein complex. Our study points out the importance of the multiprotein complex for CoQ biosynthesis in mammals, which may provide new insights to understand the genotype\u2013phenotype heterogeneity associated with human CoQ deficiency and may have a potential impact on the treatment of this mitochondrial disorder.\n                  <\/jats:p>","DOI":"10.15252\/emmm.201404632","type":"journal-article","created":{"date-parts":[[2015,3,23]],"date-time":"2015-03-23T21:44:26Z","timestamp":1427147066000},"page":"670-687","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":82,"title":["The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene"],"prefix":"10.1038","volume":"7","author":[{"given":"Marta","family":"Luna\u2010S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"D\u00edaz\u2010Casado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Barca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel \u00c1ngel","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngeles","family":"Montilla\u2010Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique Javier","family":"Cobos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germaine","family":"Escames","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Acu\u00f1a\u2010Castroviejo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina M","family":"Quinzii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Carlos","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,3,23]]},"reference":[{"key":"BFEMMM201404632_CR1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.molcel.2008.10.021","volume":"32","author":"R Acin\u2010Perez","year":"2008","unstructured":"Acin\u2010Perez R, Fernandez\u2010Silva P, Peleato ML, Perez\u2010Martos A, Enriquez JA (2008) Respiratory active mitochondrial supercomplexes. 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