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Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies

โœ Scribed by Jean-Francois, M. J. B. ;Lertrit, P. ;Berkovic, S. F. ;Crimmins, D. ;Morris, J. ;Marzuki, S. ;Byrne, E.


Book ID
119844225
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
511 KB
Volume
24
Category
Article
ISSN
0004-8291

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Sporadic MERRF/MELAS overlap syndrome as
โœ Yolanda Campos; Miguel Angel Martin; Gustavo Lorenzo; Manuel Aparicio; Ana Cabel ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 378 KB ๐Ÿ‘ 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