Original paper
A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
Volume: 87, Pages: 135 - 136
Published: Jun 1, 2021
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...
Paper Details
Title
A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
Published Date
Jun 1, 2021
Volume
87
Pages
135 - 136
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Notes
History