Results 61 to 70 of about 9,186 (248)
Multi-system neurological disease is common in patients with OPA1 mutations [PDF]
, 1907 Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy.
A. Wood +180 more
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Chronic progressive external ophthalmoplegia
Acta Ophthalmologica, 2017 SummaryChronic progressive external ophthalmoplegia (CPEO) is a slowly progressive extraocular muscle disorder characterized by bilateral, usually symmetrical, limitation of eye movements and ptosis. This classical manifestation of mitochondrial disease can develop either in isolation or more frequently, in association with other multisystemic features
openaire +1 more source
Postpump Chorea After Pediatric Cardiac Surgery: Exploring Causes and Treatment
Journal of Cardiac Surgery, Volume 2026, Issue 1, 2026.Introduction Postpump chorea is a rare but potentially disabling movement disorder that arises days to weeks after cardiopulmonary bypass, most often following deep hypothermic circulatory arrest in pediatric patients undergoing repair of complex congenital heart defects. Clinically, postpump chorea presents as involuntary, nonrhythmic, choreiform, and
Jad Abdul Khalek +4 more
wiley +1 more source
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
core +3 more sources
Experimental and Therapeutic Medicine, 2020 The aim of the present study was to explore the clinical, neuroelectrophysiological and muscular pathological characteristics of chronic progressive external ophthalmoplegia (CPEO) and to improve the understanding of CPEO.
Haidong Lv +5 more
semanticscholar +1 more source
Aging Cell, Volume 24, Issue 12, December 2025.Adenine nucleotide translocase 1 (ANT1), a mitochondrial ATP transporter, is decreased in the lung epithelium of aged adults and aged mice correlating to pathogenic airway changes. Loss of ANT1 correlates with increased cellular senescence and changes in COL8A1 in the airway epithelium of the lung.
Roshani Jha +5 more
wiley +1 more source
Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy [PDF]
, 1988 A 38 year old woman having chronic intestinal pseudoobstruction associated with mitochondrial myopathy is reported. The clinical and radiographic features suggested the diagnosis of chronic intestinal pseudoobstruction.
Bayés Rusiñol, Àngels +6 more
core +2 more sources
Arquivos de Neuro-Psiquiatria, 1988 This study quantifies the maior electron microscopic changes in limb muscle biopsies from 31 out of 34 patients with the syndrome of chronic progressive external ophthalmoplegia.
Elza Dias-Tosta
doaj +1 more source
Brain and Behavior, Volume 15, Issue 11, November 2025.We report a 32‐year‐old female patient with SANDO syndrome (a subtype of mitochondrial encephalomyopathy), who carries two heterozygous POLG mutations: a novel c.3297G>C and a known c.1774C>T. The neuronal models expressing these mutations demonstrated mitochondrial dysfunction, thereby confirming their pathogenicity.
Fanjing Zhou +6 more
wiley +1 more source
Kearns-Sayre syndrome: An unusual ophthalmic presentation
Oman Journal of Ophthalmology, 2012 Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary ...
Syed S Ahmad, Shuaibah A Ghani
doaj +1 more source