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Case Reports

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report

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Pages 88-90 | Received 21 Oct 2015, Accepted 23 Dec 2015, Published online: 07 Apr 2016

References

  • Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 2006;43:385–393.
  • Chong JX, Ouwenga R, Anderson RL, et al. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet 2012;91:608–620.
  • Ojala T, Polinati P, Manninen T, et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res 2012;72:432–437.
  • Sparkes R, Patton D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young 2007;17:215–217.
  • Wortmann SB, Duran M, Anikster Y, et al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis 2013;36:923–928.
  • Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 2004;126:349–354.
  • Sinha D, Joshi N, Chittoor B, et al. Role of magmas in protein transport and human mitochondria biogenesis. Hum Mol Genet 2010;19:1248–1262.
  • Sinha D, Srivastava S, Krishna L, et al. Unraveling the intricate organization of mammalian mitochondrial presequence translocases: existence of multiple translocases for maintenance of mitochondrial function. Mol Cell Biol 2014;34:1757–1775.
  • Richter-Dennerlein R, Korwitz A, Haag M, et al. DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab 2014;20:158–171.
  • Salman MS, Ikeda KM. The syndrome of infantile-onset saccade initiation delay. Can J Neurol Sci 2013;40:235–240.
  • Wolf NI, Koenig M. Progressive cerebellar atrophy: hereditary ataxias anddisorders with spinocerebellar degeneration. Handb Clin Neurol 2013;113:1869–1878.
  • Puñal JE, Rodríguez E, Pintos E, et al. Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency. Brain Dev 1998;20:175–178.
  • Sykora P, Croteau DL, Bohr VA, et al. Aprataxin localizes to mitochondria and preserves mitochondrial function. Proc Natl Acad Sci U S A 2011;108:7437–7442.
  • Shimazaki H, Takiyama Y, Sakoe K, et al. Early-onset ataxia with ocularmotor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002;59:590–595.

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