A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy
| Autor: | Saeed Farajzadeh Valilou, Javad Karimzad Hagh, Mohammad Salimi Asl, Isa Abdi Rad, Masoud Edizadeh, Arash Pooladi |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Clinical Case Reports, Vol 9, Iss 8, Pp n/a-n/a (2021) |
| Druh dokumentu: | article |
| ISSN: | 2050-0904 |
| DOI: | 10.1002/ccr3.4520 |
| Popis: | Abstract The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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