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Variable genotype of Leber's hereditary optic neuropathy patients.
Lott MT, Voljavec AS, Wallace DC. Lott MT, et al. Am J Ophthalmol. 1990 Jun 15;109(6):625-31. doi: 10.1016/s0002-9394(14)72429-8. Am J Ophthalmol. 1990. PMID: 2346190
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxyribonucleic acid (mtDNA). ...The demonstration of heteroplasmy within maternal lineages and affected individuals means that the successful determination of t …
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxyribonucleic acid …
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP. van Gassen KL, et al. Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10. Brain. 2012. PMID: 22964162
The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that included predominant visual loss due to optical nerve atrophy. Neuropathology in one of these cases showed severe degeneration of the …
The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that …
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
Truncating variants are the most frequent, and missense variants lead to earlier age at onset in favor of an additional deleterious effect. Cerebellar ataxia with cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity. ...
Truncating variants are the most frequent, and missense variants lead to earlier age at onset in favor of an additional deleterious effect. …
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
Patients presented with a classical but rather severe CMT phenotype, since 28% of them were wheelchair-dependent. Some had additional features as optic atrophy. Most patients had an early onset and severe disease status, whereas a smaller group experienced a later o …
Patients presented with a classical but rather severe CMT phenotype, since 28% of them were wheelchair-dependent. Some had additional featur …
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign.
Fendler W, Borowiec M, Baranowska-Jazwiecka A, Szadkowska A, Skala-Zamorowska E, Deja G, Jarosz-Chobot P, Techmanska I, Bautembach-Minkowska J, Mysliwiec M, Zmyslowska A, Pietrzak I, Malecki MT, Mlynarski W. Fendler W, et al. Diabetologia. 2012 Oct;55(10):2631-2635. doi: 10.1007/s00125-012-2621-2. Epub 2012 Jul 11. Diabetologia. 2012. PMID: 22782286 Free PMC article.
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, Van Schooneveld MJ, Westerveld A, Van den Bogert C, Tabak HF. Bolhuis PA, et al. Biochem Biophys Res Commun. 1990 Aug 16;170(3):994-7. doi: 10.1016/0006-291x(90)90490-e. Biochem Biophys Res Commun. 1990. PMID: 2390098
Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described mutation at nucleotide position 11778 was present in 5 out of 12 families and heteroplasmic mitochondrial D …
Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neur …