Article
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Journal of neurology - 1 Mar 2015
Catteruccia Michela, Sauchelli Donato, Della Marca Giacomo, Primiano Guido, Cuccagna Cristina, Bernardo Daniela, Leo Milena, Camporeale Antonella, Sanna Tommaso, Cianfoni Alessandro, Servidei Serenella
Abstract excerpt
The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus...
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