Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy. ruggilucia@gmail.com.
Lucia
L
Ruggiero
Center of Myology and Neurodegenerative Disorders, Department of Neuroscience, Istituto G. Gaslini, Largo Gaslini 5, 16147, Genoa, Italy.
Chiara
C
Fiorillo
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
Claudia
C
Nesti
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
Fiore
F
Manganelli
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
Rosa
R
Iodice
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
Marcello
M
Esposito
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
Filippo Maria
FM
Santorelli
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
Lucio
L
Santoro
D004272:DNA, Mitochondrial; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D017384:Sequence Deletion
D004272:DNA, Mitochondrial