Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male pr...
Main Authors: | Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes |
---|---|
Format: | Article |
Language: | English |
Published: |
Korean Movement Disorder Society
2021-05-01
|
Series: | Journal of Movement Disorders |
Subjects: | |
Online Access: | http://www.e-jmd.org/upload/jmd-20159.pdf |
Similar Items
-
Potential toxicity of quercetin: The repression of mitochondrial copy number via decreased POLG expression and excessive TFAM expression in irradiated murine bone marrow
by: Ruiqing Chen, et al.
Published: (2014-01-01) -
POLG Novel Mutation with Alpers Syndrome
by: J Gordon Millichap
Published: (2012-02-01) -
Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon
by: Yousuf A. Khan, et al.
Published: (2020-03-01) -
POLG1 Mutations and Charcot-Marie-Tooth Disease
by: J Gordon Millichap
Published: (2008-02-01) -
The Y831C Mutation of the <i>POLG</i> Gene in Dementia
by: Eugenia Borgione, et al.
Published: (2023-04-01)