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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Authors | Jinhee Kim, Ilsoo Kim, Seong-Beom Koh |
Journal | Parkinsonism & related disorders
(Parkinsonism Relat Disord)
Vol. 87
Pg. 135-136
(06 2021)
ISSN: 1873-5126 [Electronic] England |
PMID | 34034154
(Publication Type: Case Reports, Letter)
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Copyright | Copyright © 2021 Elsevier Ltd. All rights reserved. |
Chemical References |
- Alkyl and Aryl Transferases
- dehydrodolichyl diphosphate synthetase
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Topics |
- Age of Onset
- Alkyl and Aryl Transferases
(genetics)
- Female
- Humans
- Middle Aged
- Mutation
- Myoclonic Epilepsies, Progressive
(diagnosis, genetics, physiopathology)
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