{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:04Z","timestamp":1791121444194,"version":"4.1.0"},"reference-count":20,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,9,28]]},"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The <jats:italic>TMEM70<\/jats:italic> gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with <jats:italic>TMEM70<\/jats:italic> disorder reported to date display a distinctive phenotype characterised by neonatal onset of severe muscular hypotonia hypertrophic cardiomyopathy, facial dysmorphism, profound lactic acidosis, and 3-methylglutaconic aciduria. Almost all share a common Roma descent and are homozygous for a single founder splice site mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"methods\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Six new patients from four separate families, with clinical and biochemical diagnosis of ATP synthase deficiency, were studied. <jats:italic>TMEM70<\/jats:italic> sequence analysis of the three exons and their flanking splice junction consensus sequences was performed in all patients. In addition their clinical phenotype and disease course was strictly studied.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"results\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Four novel deleterious homozygous <jats:italic>TMEM70<\/jats:italic> mutations were identified. The previously described clinical spectrum was expanded to include infantile onset cataract, early onset gastrointestinal dysfunction and congenital hypertonia with multiple contractures resembling arthrogryposis. The first characterisation of fetal presentation of the syndrome is also provided, featuring significant intrauterine growth retardation, severe oligohydramnios, fetal hypotonia, and myocardial wall thickening.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The current report corroborates the previously described unique phenotype of <jats:italic>TMEM70<\/jats:italic> deficiency. The study identifies <jats:italic>TMEM70<\/jats:italic> gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.084608","type":"journal-article","created":{"date-parts":[[2010,12,8]],"date-time":"2010-12-08T22:10:44Z","timestamp":1291846244000},"page":"177-182","source":"Crossref","is-referenced-by-count":65,"title":["TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome"],"prefix":"10.1136","volume":"48","author":[{"given":"Ronen","family":"Spiegel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit 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