MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis

Author:

Carré F.,Hervochon R.,Foirest C.,Tankéré F.

Publisher

Elsevier BV

Subject

Otorhinolaryngology,Surgery

Reference10 articles.

1. Maladies du tissu adipeux: lipomes, lipomatoses, lipodystrophies;Delgado,2011

2. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome?. Light and electron microscopy of two cases and a review of the literature;Fukuhara;J Neurol Sci,1980

3. MERRF. SourceGeneReviews® [Internet].;DiMauro,2003

4. Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation;Mancuso;Neurology,2013

5. Clinical features of mitochondrial myopathies and encephalomyopathies;Hirano,1996

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1. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

2. Tremblement oropharyngé;Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale;2022-04

3. Oropharyngeal tremor;European Annals of Otorhinolaryngology, Head and Neck Diseases;2021-09

4. Rare Forms of Lipomatosis: Dercum’s Disease and Roch-Leri Mesosomatous Lipomatosis;Journal of Clinical Medicine;2021-03-21

5. Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report;A&A Practice;2021-02

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