Are c.436G>A mutations less severe forms of Lafora disease? A case report
Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed. We report the case of a 23-year-old woman of Turkish origin w...
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| Huvudupphov: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Elsevier
2014-01-01
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| Serie: | Epilepsy and Behavior Case Reports |
| Ämnen: | |
| Länkar: | http://www.sciencedirect.com/science/article/pii/S2213323213000467 |
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