A PTG variant contributes to a milder phenotype in Lafora disease
A PTG variant contributes to a milder phenotype in Lafora disease
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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 disease patients with EPM2A or EPM2B mutations. We...
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Full title
A PTG variant contributes to a milder phenotype in Lafora disease
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TN_cdi_plos_journals_1319242376
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1319242376
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0021294
