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Quoted phrase not found in phrase index: "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
Page 1
Mitochondrial depletion syndromes in children and adults.
Finsterer J, Ahting U. Finsterer J, et al. Can J Neurol Sci. 2013 Sep;40(5):635-44. doi: 10.1017/s0317167100014852. Can J Neurol Sci. 2013. PMID: 23968935 Review.
Adult MDS manifest similarly to early-onset MDS, as myopathy, encephalo-myopathy, hepato-cerebral syndrome, or with chronic progressive external ophthalmoplegia (CPEO), fatigue, or only minimal muscular manifestations. ...Outcome of ad …
Adult MDS manifest similarly to early-onset MDS, as myopathy, encephalo-myopathy, hepato-cerebral syndrome, or with chronic …
Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.
Bharathidasan K, Evans A, Fernandez FMAO, Motes AT, Nugent K. Bharathidasan K, et al. J Prim Care Community Health. 2023 Jan-Dec;14:21501319231172697. doi: 10.1177/21501319231172697. J Prim Care Community Health. 2023. PMID: 37162197 Free PMC article.
The clinical manifestations of mitochondrial disease can be broadly classified into 3 categories: chronic progressive external ophthalmoplegia, skeletal muscle-central nervous system syndromes, or pure myopathy. ...Adult-onset …
The clinical manifestations of mitochondrial disease can be broadly classified into 3 categories: chronic progressive …
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.
Pfeffer G, Mezei MM. Pfeffer G, et al. Muscle Nerve. 2012 Oct;46(4):593-6. doi: 10.1002/mus.23538. Muscle Nerve. 2012. PMID: 22987704 Review.
INTRODUCTION: Patients with mitochondrial myopathies may develop cardiac complications such as cardiomyopathy and/or cardiac conduction defects. ...The optimal time interval for such screening investigations is unknown. We developed this study to review our screenin …
INTRODUCTION: Patients with mitochondrial myopathies may develop cardiac complications such as cardiomyopathy and/or cardiac c …
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.
Pfeffer G, Sirrs S, Wade NK, Mezei MM. Pfeffer G, et al. Can J Neurol Sci. 2011 Jan;38(1):119-23. doi: 10.1017/s031716710001115x. Can J Neurol Sci. 2011. PMID: 21156440
INTRODUCTION: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). ...We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis o …
INTRODUCTION: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a diseas …
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Although many patients are homozygous for this mutation, clinical presentation is highly variable, ranging from childhood-onset Alpers-Huttenlocher syndrome to adult-onset sensory ataxic neuropathy dysarthria and ophthalmoparesis. ...However, the p.Ala467Thr allele …
Although many patients are homozygous for this mutation, clinical presentation is highly variable, ranging from childhood-onset Alpers-Hutte …
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.
Ascaso FJ, Lopez-Gallardo E, Del Prado E, Ruiz-Pesini E, Montoya J. Ascaso FJ, et al. Clin Exp Ophthalmol. 2010 Nov;38(8):812-6. doi: 10.1111/j.1442-9071.2010.02335.x. Clin Exp Ophthalmol. 2010. PMID: 20497429
We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multipl …
We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculop …
Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.
Pulkes T, Liolitsa D, Nelson IP, Hanna MG. Pulkes T, et al. Neurology. 2003 Oct 28;61(8):1144-7. doi: 10.1212/01.wnl.0000090465.27024.3d. Neurology. 2003. PMID: 14581685
Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial …
Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. …