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MELAS/SANDO overlap syndrome associated with POLG1 mutations

✍ Scribed by Niels Hansen; Thomas Zwarg; Isabel Wanke; Stephan Zierz; Oliver Kastrup; Marcus Deschauer


Book ID
106269245
Publisher
Springer Milan
Year
2011
Tongue
English
Weight
225 KB
Volume
33
Category
Article
ISSN
1590-1874

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Sporadic MERRF/MELAS overlap syndrome as
✍ Yolanda Campos; Miguel Angel Martin; Gustavo Lorenzo; Manuel Aparicio; Ana Cabel πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 378 KB πŸ‘ 1 views

## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show