Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

被引：1
|
作者：
Ruggiero, Lucia [1 ]
Fiorillo, Chiara [2 ]
Nesti, Claudia [3 ]
Manganelli, Fiore [1 ]
Iodice, Rosa [1 ]
Esposito, Marcello [1 ]
Santorelli, Filippo Maria [3 ]
Santoro, Lucio [1 ]
机构：
[1] Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy
[2] Ist Giannina Gaslini, Dept Neurosci, Ctr Myol & Neurodegenerat Disorders, Largo Gaslini 5, I-16147 Genoa, Italy
[3] IRCCS Stella Maris, Mol Med, Via Giacinti 2, I-56128 Pisa, Italy
来源：
JOURNAL OF NEUROLOGY | 2017年 / 264卷 / 03期
关键词：
AMYOTROPHIC-LATERAL-SCLEROSIS; PERIPHERAL NEUROPATHY;
D O I：
10.1007/s00415-017-8409-z
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：597 / 599
页数：3
相关论文
共 50 条
  • [1] Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
    Lucia Ruggiero
    Chiara Fiorillo
    Claudia Nesti
    Fiore Manganelli
    Rosa Iodice
    Marcello Esposito
    Filippo Maria Santorelli
    Lucio Santoro
    Journal of Neurology, 2017, 264 : 597 - 599
  • [2] A single deletion of mitochondrial DNA in a brazilian patient with chronic progressive external ophthalmoplegia
    Carod-Artal, FJ
    Solano-Palacios, A
    Playán-Ariso, A
    Viana-Brandi, I
    López-Gallardo, E
    Andreu, A
    López-Pérez, M
    Montoya, J
    REVISTA DE NEUROLOGIA, 2003, 37 (11) : 1029 - 1031
  • [3] Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion
    Gaetani, Lorenzo
    Mignarri, Andrea
    Di Gregorio, Maria
    Sarchielli, Paola
    Malandrini, Alessandro
    Cardaioli, Elena
    Calabresi, Paolo
    Dotti, Maria Teresa
    Di Filippo, Massimiliano
    JOURNAL OF NEUROLOGY, 2016, 263 (07) : 1449 - 1451
  • [4] Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion
    Lorenzo Gaetani
    Andrea Mignarri
    Maria Di Gregorio
    Paola Sarchielli
    Alessandro Malandrini
    Elena Cardaioli
    Paolo Calabresi
    Maria Teresa Dotti
    Massimiliano Di Filippo
    Journal of Neurology, 2016, 263 : 1449 - 1451
  • [5] Chronic progressive external ophthalmoplegia with a large novel deletion of mitochondrial DNA confirmed by MLPA assay
    Kang, S-Y
    Kim, H. J.
    Oh, J-H
    EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 : 624 - 624
  • [6] Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion
    Finsterer, Josef
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (12)
  • [7] Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia
    Hirt, L
    Magistertti, PJ
    Hirt, L
    Bogousslavsky, J
    Boulat, O
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1996, 61 (04): : 422 - 423
  • [8] Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNALeu(UUR) gene
    Grünewald, T
    Porschke, H
    Goebel, H
    Reichmann, H
    Seibel, P
    DRUG DEVELOPMENT RESEARCH, 1999, 46 (01) : 80 - 85
  • [9] Mitochondrial Chronic Progressive External Ophthalmoplegia
    Ali, Ali
    Esmaeil, Ali
    Behbehani, Raed
    BRAIN SCIENCES, 2024, 14 (02)
  • [10] Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion
    Zhao, Danhua
    Wang, Zhaoxia
    Hong, Daojun
    Zhang, Wei
    Yuan, Yun
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2013, 115 (08) : 1490 - 1492
12345