The possibility of using skin biopsy in the diagnosis of Lafora disease
Lafora disease is a hereditary, autosomal recessive progressive myoclonus epilepsy caused by mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Clinical manifestations of the disease are determined by the accumulation of spec...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Siberian State Medical University (Tomsk)
2020-01-01
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| Series: | Bûlleten' Sibirskoj Mediciny |
| Subjects: | |
| Online Access: | https://bulletin.tomsk.ru/jour/article/view/2576 |