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2015 | 4 | 312-315

Article title

Padaczka miokloniczna z włóknami szmatowatymi (zespół MERRF) – analiza kliniczno-elektrofizjologiczna

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References

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  • Blakely EL , Trip SA , Swalwell H, et al. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009; 66: 399–402.
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  • Fukuhara N, Tokiguchi S, Shirakawa K, et al. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities):disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980; 47: 117–133.
  • Catteruccia M, Sauchelli D, Della Marca G, et al. „Myo-cardiomyopathy” is commonly associated with the A8344G „MERR F”mutation. J Neurol 2015; 262: 701–710.
  • Blakely EL , Alston CL, Lecky B, et al. Distal weakness with respiratory insufficiency caused by the m.8344A > G „MERR F”mutation. Neuromuscul Disord 2014; 24: 533–536.
  • DiMauro S, Hirano M, Kaufmann P, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002; 89: 217–229.
  • Mancuso M, Orsucci D, Angelini C, et al. Phenotypic heterogeneity of the 8344A>G mtDNA „MERR F” mutation. Neurology 2013; 80: 2049–2054.
  • Bourgeois JM, Tarnopolsky MA. Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion 2004; 4: 441–452.
  • Hasegawa H, Matsuoka T, Goto Y, et al. Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers. Acta Neuropathol 1993; 85: 280–284.
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  • Teive HA, Munhoz RP, Muzzio JA, et al. Cerebellar ataxia, myoclonus, cervical lipomas, and MERR F syndrome. Case report.Mov Disord 2008; 23(8): 1191–1192.
  • . Anglin RE , Rosebush PI, Noseworthy MD, et al. Metabolite measurements in the caudate nucleus, anterior cingulate cortex and hippocampus among patients with mitochondrial disorders: a case-control study using proton magnetic resonance spectroscopy.CMAJ Open 2013; 1(1): E48–E55.
  • Lorenzoni PJ, Scola RH, Kay CS, et al. MERR F: clinical features, muscle biopsy and molecular genetics in Brazilian patients.Mitochondrion 2011; 11: 528–532.
  • Zsurka G, Becker F, Heinen M, et al. Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.Seizure 2013; 22: 483–486.
  • Ozawa M, Goto Y, Sakuta R, et al. The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutantDNA and clinico-pathologic findings. Neuromuscul Disord 1995; 5: 483–488.
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  • Chandra SR , Issac TG, Gayathri N, et al. A typical case of myoclonic epilepsy with ragged red fibers (MERR F) and the lessons learned. J Postgrad Med 2015; 61: 200–202
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Publication order reference

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bwmeta1.element.desklight-a749a013-231a-4fe2-b2bd-7dc90842275f
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