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Quoted phrase not found in phrase index: "Ataxia, deafness, and cardiomyopathy"
Page 1
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
Whole exome sequencing performed in five large consanguineous nuclear families allowed us to identify homozygosity for two recurrent missense variants affecting highly conserved residues of RNF220 as the causative event underlying a novel form of leukodystrophy with ataxia …
Whole exome sequencing performed in five large consanguineous nuclear families allowed us to identify homozygosity for two recurrent missens …
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP. Virgilio R, et al. J Neurol Sci. 2009 Jun 15;281(1-2):85-92. doi: 10.1016/j.jns.2009.01.025. Epub 2009 Mar 10. J Neurol Sci. 2009. PMID: 19278689 Review.
The two probands are dizygotic twin sisters affected by mental retardation, neural deafness, myopathy, myoclonic epilepsy and ataxia. Twins' muscle biopsies showed a severe cytochrome c oxidase (COX) deficiency and ragged-red fibers. Their mitochondrial respiratory …
The two probands are dizygotic twin sisters affected by mental retardation, neural deafness, myopathy, myoclonic epilepsy and atax …
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO. Melberg A, et al. J Neurol Sci. 1995 Dec;134(1-2):119-29. doi: 10.1016/0022-510x(95)00228-0. J Neurol Sci. 1995. PMID: 8747854
A new autosomal dominant syndrome in a Swedish pedigree is described. Five patients were affected with cerebellar ataxia and sensorineural deafness. Four of these patients had symptoms of narcolepsy. ...Linkage was excluded to HLA DR2, and a normal sized SCA1 repeat …
A new autosomal dominant syndrome in a Swedish pedigree is described. Five patients were affected with cerebellar ataxia and sensorin …
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.
Alemi M, Prigione A, Wong A, Schoenfeld R, DiMauro S, Hirano M, Taroni F, Cortopassi G. Alemi M, et al. Free Radic Biol Med. 2007 Jan 1;42(1):32-43. doi: 10.1016/j.freeradbiomed.2006.09.014. Epub 2006 Sep 19. Free Radic Biol Med. 2007. PMID: 17157191 Free PMC article.
The clinical signs of KSS include muscle weakness, heart block, pigmentary retinopathy, ataxia, deafness, short stature, and dementia. The identical deletions occur and rise exponentially as humans age, particularly in substantia nigra. Deletions at >30% concentr …
The clinical signs of KSS include muscle weakness, heart block, pigmentary retinopathy, ataxia, deafness, short stature, and d …
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH. Frederiksen AL, et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2872-9. doi: 10.1210/jc.2009-0235. Epub 2009 May 26. J Clin Endocrinol Metab. 2009. PMID: 19470628
INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epi …
INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome …
Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle.
Riera AR, Kaiser E, Levine P, Schapachnik E, Dubner S, Ferreira C, Ferreira Filho C, de Luna AB, Zhang L. Riera AR, et al. J Electrocardiol. 2008 Nov-Dec;41(6):675-8. doi: 10.1016/j.jelectrocard.2008.04.001. Epub 2008 May 19. J Electrocardiol. 2008. PMID: 18490026
Ragged red muscle fibers that seem to contain an excess of altered mitochondria are observed. The disease affects both sexes alike, during the first or the second decade of life. The following manifestations are observed: central bilateral sensorineural deafness …
Ragged red muscle fibers that seem to contain an excess of altered mitochondria are observed. The disease affects both sexes alike, d …