MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization

A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, did not have any neurological symptoms. Proband’s ske...

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Detalles Bibliográficos
Autores principales: Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ronchi, Dario, Ciscato, Patrizia, Comi, Giacomo Pietro, Moggio, Maurizio, Sciacco, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865457/
https://www.ncbi.nlm.nih.gov/pubmed/36675808
http://dx.doi.org/10.3390/jpm13010147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865457/
https://www.ncbi.nlm.nih.gov/pubmed/36675808
http://dx.doi.org/10.3390/jpm13010147

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