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A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy |
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| Authors: | Saeed Farajzadeh Valilou Javad Karimzad Hagh Mohammad Salimi Asl Isa Abdi Rad Masoud Edizadeh Arash Pooladi |
| Abstract: | The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant. |
| Keywords: | ataxia, laminopathy, LMNB2, progressive myoclonus epilepsies, whole‐ exome sequencing |