WebNov 27, 2013 · Twinkle, encoded by TWNK (also known as C10orf2 or PEO1, locus 10q24.31), is a hexameric 5’–3’ DNA helicase, involved in mtDNA replication and copy number regulation, which belongs to the SF4 ring-shaped helicase superfamily, closely associated to the bacteriophage T7 gene protein 4 primase-helicase (Korhonen et al., … WebClinical Features and TWNK Gene Variants. Ten literature reports about PRLTS5 were retrieved, and 20 affected patients, including our patient (female: male = 18:2), from 12 different families have been reported so far. The clinical features of patients with TWNK mutations of PRLTS5 were summarized in Table 1 (for more detailed information, see ...
TWNK twinkle mtDNA helicase - NIH Genetic Testing …
WebNov 19, 2024 · Mutations in POLG2, TWNK, RRM2B, SLC25A4, MGME1, DNA2, RNASEH1, TK2, DGUOK, MPV17, SPG7 and AFG3L2 have been implicated in adPEO and/or arPEO … WebTWNK_ENST00000370228 - Explore an overview of TWNK_ENST00000370228, with a histogram displaying coding mutations, full tabulated details of all associated variants, … happy birthday marine card
A Novel Missense Mutation in TWNK Gene PGPM
• Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (February 1995). "An autosomal locus predisposing to deletions of mitochondrial DNA". Nature Genetics. 9 (2): 146–51. doi:10.1038/ng0295-146. PMID 7719341. S2CID 32160642. • Hirano M, DiMauro S (December 2001). "ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia". Neurology. 57 (12): 2163–5. doi:10.1212/wnl.57.12.2163. PMID 11756592. S… WebLast but not the least, an infant having a recessive disorder for the mutations concerning TWNK resulting in mitochondrial DNA depletion diagnosed by WES is not a fit for liver … WebMolecular and clinical characterization of novel cases of recessive disorders caused by TWNK mutations is strongly needed to get further insight into the genotype–phenotype correlations of a phenotypic continuum encompassing Perrault syndrome, infantile-onset spinocerebellar ataxia, and hepatocerebral syndrome. happy birthday marine corps 2019 images