A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

Edizadeh, Masoud and Farajzadeh Valilou, Saeed and Karimzad Hagh, Javad and Salimi Asl, Mohammad and Abdi Rad, Isa (2021) A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy. Clin Case Rep.

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Abstract

The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine, Health and Life Sciences > School of Medicine
Depositing User: samira sepahvandy
Date Deposited: 14 Sep 2021 05:00
Last Modified: 14 Sep 2021 05:00
URI: http://eprints.lums.ac.ir/id/eprint/2977

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