POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

BACKGROUND: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. CASE PRESENTATION...

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Main Authors: Cheldi, Antonella, Ronchi, Dario, Bordoni, Andreina, Bordo, Bianca, Lanfranconi, Silvia, Bellotti, Maria Grazia, Corti, Stefania, Lucchini, Valeria, Sciacco, Monica, Moggio, Maurizio, Baron, Pierluigi, Comi, Giacomo Pietro, Colombo, Antonio, Bersano, Anna
格式: Artigo
語言:Inglês
出版: BioMed Central 2013
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570393/
https://ncbi.nlm.nih.gov/pubmed/23324391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-13-8
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