eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lafora disease |
| Comorbidity | C0751783|lafora disease |
| Sentences | 3 |
| PubMedID- 21738631 | We aimed to identify modifier genes that may contribute to the clinical course of lafora disease patients with epm2a or epm2b mutations. |
| PubMedID- 24068615 | In lafora disease (ld), the deficiency of either epm2a or nhlrc1, the genes encoding the phosphatase laforin and e3 ligase, respectively, causes massive accumulation of less-branched glycogen inclusions, known as lafora bodies, also called polyglucosan bodies (pbs), in several types of cells including neurons. |
| PubMedID- 22047982 | Four novel and two recurrent nhlrc1 (epm2b) and epm2a gene mutations leading to lafora disease in six turkish families. |
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