| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10762819 | Biochemical and Biophysical Research Communications | 2011 | 4 Pages |
Abstract
⺠Exercise intolerance is associated with mutations in mitochondrial DNA genes. ⺠A 11-year-old boy with exercise-related myopathy showed a novel mt-tRNAAsn mutation. ⺠Extensive investigations supported the pathogenicity of this mutation. ⺠A mitochondrial myopathy should be considered in children with exercise intolerance.
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Authors
Claudio Bruno, Denise Cassandrini, Fabiana Fattori, Marina Pedemonte, Chiara Fiorillo, Giorgia Brigati, Giacomo Brisca, Carlo Minetti, Filippo M. Santorelli,