A PTG variant contributes to a milder phenotype in Lafora disease.
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora d...
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| Auteurs principaux: | , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Public Library of Science (PLoS)
2011
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/decbd37294894b3a9ad223c460a37b7c |
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