Phenotypic spectrum of POLG1 mutations
Author:
Funder
none
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/article/10.1007/s10072-017-3116-1/fulltext.html
Reference5 articles.
1. Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A (2017) Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci 38:563–570
2. Vallabh NA, Romano V, Willoughby CE (2017) Mitochondrial dysfunction and oxidative stress in corneal disease. Mitochondrion 7249(17):30140–3014X. https://doi.org/10.1016/j.mito.2017.05.009
3. Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS (2010) UBIAD1 Mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS One 5:e10760
4. Vital A, Lepreux S, Vital C (2014) Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum. J Peripher Nerv Syst 19:333–342
5. Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA (2015) The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. Neuromuscul Disord 25:333–339
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