| 1 | CACM2, MTDPS12, SLC25A4
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| Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
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| Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.
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| J Med Genet 49(2):146-50. Epub 2011 Dec 20. 2012
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| 2 | CACM2, MTDPS10
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| Neuroradiologic findings in Sengers syndrome.
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| Perry MS, Sladky JT.
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| Pediatr Neurol 39(2):113-5. 2008
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| 3 | CACM2, MTDPS10
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| Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
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| Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J.
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| Eur J Pediatr 163(8):467-71. Epub 2004 May 27. 2004
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