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Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art.

Authors :
Kiferle, Lorenzo
Orsucci, Daniele
Mancuso, Michelangelo
Lo Gerfo, Annalisa
Petrozzi, Lucia
Siciliano, Gabriele
Ceravolo, Roberto
Bonuccelli, Ubaldo
Source :
Neuroscience Letters. Nov2013, Vol. 556, p1-4. 4p.
Publication Year :
2013

Abstract

Highlights: [•] We here describe a family with two sisters and one son affected by a PEO1 mutation. [•] The sisters had a clinical parkinsonism confirmed by FP-CIT SCAN. [•] The characteristics of parkinsonisms are fully described in the paper. [•] The paper provides a short review of the phenotypes of the parkinsonisms associated to PEO1 mutation described in the literature. [Copyright &y& Elsevier]

Details

Language :
English
ISSN :
03043940
Volume :
556
Database :
Academic Search Index
Journal :
Neuroscience Letters
Publication Type :
Academic Journal
Accession number :
92516516
Full Text :
https://doi.org/10.1016/j.neulet.2013.09.034