[HTML][HTML] A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy
SF Valilou, JK Hagh, MS Asl, IA Rad… - Clinical case …, 2021 - ncbi.nlm.nih.gov
Clinical case reports, 2021•ncbi.nlm.nih.gov
… We report a patient presenting autosomal recessive progressive myoclonus epilepsy.
Whole‐exome sequencing was used, and a novel missense homozygous c.473G>T … In
the current study, we described an Iranian affected offspring with indications of progressive
wide‐based ataxic gait and intractable myoclonic seizure with a homozygous missense c.473G>T …
Whole‐exome sequencing was used, and a novel missense homozygous c.473G>T … In
the current study, we described an Iranian affected offspring with indications of progressive
wide‐based ataxic gait and intractable myoclonic seizure with a homozygous missense c.473G>T …
Abstract
The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c. 473G> T variant.
ncbi.nlm.nih.gov
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