Article
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.
Neuroscience letters - 27 Nov 2013
Kiferle Lorenzo, Orsucci Daniele, Mancuso Michelangelo, Lo Gerfo Annalisa, Petrozzi Lucia, Siciliano Gabriele, Ceravolo Roberto, Bonuccelli Ubaldo
Abstract excerpt
The objective is to describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism with a Twinkle mutation. The proband, an 82 years old female, reported since childhood bilateral eyelid ptosis, ophthalmoplegia, sensorineural hypoacusis, mild depression since she was 45, with a positive familiar anamnesis of eyelid ptosis (father, two...
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