LETTER TO THE EDITOR
Diagnosing MERRF requires clinical and genetic evidence
1
Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland
2
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
3
Laboratory of Molecular Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
Publication date: 2019-09-04
Pol J Pathol 2019;70(2):144-145
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1.
Felczak P, Stêpniak I, Kowalski P, et al. Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study. Pol J Pathol 2018; 69: 422-431.
2.
Lewandowska E, Wierzba-Bobrowicz T, Buczek J, et al. CADASIL patient with extracellular calcium deposits. Folia Neuropathol 2013; 51: 302-311.
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Ballanti P, Silvestrini G, Pisano S, et al. Medial artery calcification of uremic patients: a histological, histochemical and ultrastructural study. Histol Histopathol 2011; 26: 191-200.
4.
Lorenzoni PJ, Scola RH, Kay CS, et al. When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? Arq Neuropsiquiatr 2014; 72: 803-811.
5.
Finsterer J, Zarrouk-Mahjoub S. Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. Neuropsychiatr Dis Treat 2017; 13: 2569-2579.
6.
Altmann J, Büchner B, Nadaj-Pakleza A, et al. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. J Neurol 2016; 263: 961-972. www.mitomap.org/MITOMAP.
| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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