Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome

We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are typically thought of as a benign/isolated entity and this case emphasises importance of considering mitochon...

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Detaylı Bibliyografya
Yayımlandı:BMJ Case Rep
Asıl Yazarlar: Jeeva-Patel, Trishal, Freund, Paul, Margolin, Edward A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2021
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8006766/
https://ncbi.nlm.nih.gov/pubmed/33766967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-240463
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