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A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
- Authors
- Kim, Jinhee; Kim, Ilsoo; Koh, Seong-Beom
- Issue Date
- 6월-2021
- Publisher
- ELSEVIER SCI LTD
- Keywords
- DHDDS mutation; Progressive myoclonic epilepsy; Progressive myoclonus ataxia
- Citation
- PARKINSONISM & RELATED DISORDERS, v.87, pp.135 - 136
- Indexed
- SCIE
SCOPUS
- Journal Title
- PARKINSONISM & RELATED DISORDERS
- Volume
- 87
- Start Page
- 135
- End Page
- 136
- ISSN
- 1353-8020
- Abstract
- We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy.
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Collections - College of Medicine > Department of Medical Science > 1. Journal Articles
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