POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature revie...
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review
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United States: John Wiley & Sons, Inc
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English
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United States: John Wiley & Sons, Inc
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Polymerase gamma (POLG) is an enzyme responsible for the replication and repair of mitochondrial DNA. Mutations in POLG may cause variable clinical manifestations, including parkinsonism, epilepsy, cerebellar ataxia, neuropathy, and progressive external ophthalmoplegia. However, mutations of this gene are rare in patients with typical Parkinson's d...
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POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6520296
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6520296
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ISSN
2162-3279
E-ISSN
2162-3279
DOI
10.1002/brb3.1281
