Open AccessA novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy
Author(s) -
Farajzadeh Valilou Saeed,
Karimzad Hagh Javad,
Salimi Asl Mohammad,
Abdi Rad Isa,
Edizadeh Masoud,
Pooladi Arash
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4520
Subject(s) - myoclonus , medicine , progressive myoclonus epilepsy , ataxia , epilepsy , missense mutation , neuroscience , anesthesia , psychiatry , mutation , psychology , genetics , biology , gene
Abstract The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.