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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M. Ghezzi D, et al. Among authors: torroni a. Eur J Hum Genet. 2005 Jun;13(6):748-52. doi: 10.1038/sj.ejhg.5201425. Eur J Hum Genet. 2005. PMID: 15827561 Free article.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Torroni A, et al. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.
Do the four clades of the mtDNA haplogroup L2 evolve at different rates?
Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R. Torroni A, et al. Am J Hum Genet. 2001 Dec;69(6):1348-56. doi: 10.1086/324511. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595973 Free PMC article.
271 results