Article
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
Journal of medical genetics - 1 Mar 2011
Spiegel Ronen, Khayat Morad, Shalev Stavit A, Horovitz Yoseph, Mandel Hanna, Hershkovitz Eli, Barghuti Flora, Shaag Avraham, Saada Ann, Korman Stanley H, Elpeleg Orly, Yatsiv Ido
Abstract excerpt
BACKGROUND: The TMEM70 gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 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...
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