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Quoted phrase not found in phrase index: "Maternally-inherited progressive external ophthalmoplegia"
Page 1
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acid …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external …
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Cell Calcium. 2016. PMID: 26996063 Review.
Impaired mitochondrial function in various tissues and organs results in the multi-organ manifestations of mitochondrial diseases including epilepsy, intellectual disability, skeletal and cardiac myopathies, hepatopathies, endocrinopathies, and nephropathies. Defects in nDNA gene …
Impaired mitochondrial function in various tissues and organs results in the multi-organ manifestations of mitochondrial diseases including …
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. J Neurol. 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. J Neurol. 2003. PMID: 12638015 Review.
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. ...
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous system …
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
Numerous mutations in mtDNA have been described in the past 5 years, and, it is, therefore, important for the clinician to keep in mind both some characteristic clinical presentations and, more importantly, some basic principles of "mitochondrial genetics," including heteroplasmy …
Numerous mutations in mtDNA have been described in the past 5 years, and, it is, therefore, important for the clinician to keep in mind both …
Defects of mitochondrial DNA.
Zeviani M, Antozzi C. Zeviani M, et al. Brain Pathol. 1992 Apr;2(2):121-32. doi: 10.1111/j.1750-3639.1992.tb00680.x. Brain Pathol. 1992. PMID: 1341953 Review.
The first group includes myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO) and a ne …
The first group includes myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke- …
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A. Almarzooqi F, et al. Acta Haematol. 2023;146(3):220-225. doi: 10.1159/000529311. Epub 2023 Feb 10. Acta Haematol. 2023. PMID: 36774923 Review.
Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common ph …
Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical …
Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia.
Rowland LP, Hirano M, DiMauro S, Schon EA. Rowland LP, et al. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S15-21. doi: 10.1016/s0960-8966(97)00076-x. Neuromuscul Disord. 1997. PMID: 9392010 Review.
Progressive external ophthalmoplegia comprises many different disorders. ...Among those of later onset the most common causes are oculopharyngeal muscular dystrophy, oculopharyngodistal muscular dystrophy and the several mitochondrial disorders, especially th …
Progressive external ophthalmoplegia comprises many different disorders. ...Among those of later onset the most common …
A review of cochlear implantation in mitochondrial sensorineural hearing loss.
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG. Sinnathuray AR, et al. Otol Neurotol. 2003 May;24(3):418-26. doi: 10.1097/00129492-200305000-00012. Otol Neurotol. 2003. PMID: 12806294 Review.
In syndromic cases-mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS), maternally inherited diabetes and deafness, Kearns-Sayre syndrome, and chronic progressive external ophthalmoplegia-the SNHL compounds alre …
In syndromic cases-mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS), maternally inherited diabet …
Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM. Shoffner JM. Lancet. 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. Lancet. 1996. PMID: 8909383 Review.
Mitochondrial mutations have been associated with a range of disorders, some of which can be inherited maternally as well as by mendelian patterns. The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns- …
Mitochondrial mutations have been associated with a range of disorders, some of which can be inherited maternally as well as b …
Cognitive dysfunction in mitochondrial disorders.
Finsterer J. Finsterer J. Acta Neurol Scand. 2012 Jul;126(1):1-11. doi: 10.1111/j.1600-0404.2012.01649.x. Epub 2012 Feb 15. Acta Neurol Scand. 2012. PMID: 22335339
Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, myoclonus epilepsy with ragged-red fibres syndrome, mitochondrial chronic progr …
Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, …
23 results