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Results: 1 to 20 of 100

1.

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.

Cardaioli E, Malfatti E, Battisti C, Da Pozzo P, Rubegni A, Gallus GN, Malandrini A, Federico A.

J Neurol Sci. 2012 Oct 15;321(1-2):92-5. doi: 10.1016/j.jns.2012.07.027. Epub 2012 Aug 24.

PMID:
22925535
[PubMed - indexed for MEDLINE]
2.

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy.

Jeppesen TD, Duno M, Risom L, Wibrand F, Rafiq J, Krag T, Jakobsen J, Andersen H, Vissing J.

Neuromuscul Disord. 2014 Feb;24(2):162-6. doi: 10.1016/j.nmd.2013.08.004. Epub 2013 Aug 20.

PMID:
24161205
[PubMed - indexed for MEDLINE]
3.
4.

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM.

Neuromuscul Disord. 2002 Oct;12(7-8):659-664.

PMID:
12207935
[PubMed - indexed for MEDLINE]
5.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

PMID:
10065021
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

Horvath R, Kley RA, Lochmüller H, Vorgerd M.

Neurology. 2007 Jan 2;68(1):56-8.

PMID:
17200493
[PubMed - indexed for MEDLINE]
7.

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW.

Muscle Nerve. 2009 Oct;40(4):648-51. doi: 10.1002/mus.21342.

PMID:
19618438
[PubMed - indexed for MEDLINE]
8.

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.

Moslemi AR, Lindberg C, Toft J, Holme E, Kollberg G, Oldfors A.

Neuromuscul Disord. 2004 Jan;14(1):46-50.

PMID:
14659412
[PubMed - indexed for MEDLINE]
9.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
[PubMed - indexed for MEDLINE]
10.

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE.

Ann Neurol. 2003 Dec;54(6):820-3.

PMID:
14681892
[PubMed - indexed for MEDLINE]
11.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T.

Pediatr Neurol. 2002 Nov;27(5):397-400.

PMID:
12504210
[PubMed - indexed for MEDLINE]
12.

A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes.

Terasaki F, Tanaka M, Kawamura K, Kanzaki Y, Okabe M, Hayashi T, Shimomura H, Ito T, Suwa M, Gong JS, Zhang J, Kitaura Y.

Jpn Circ J. 2001 Jul;65(7):691-4.

PMID:
11446509
[PubMed - indexed for MEDLINE]
Free Article
13.

A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.

Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E.

Ital Heart J. 2004 Jun;5(6):460-5.

PMID:
15320572
[PubMed - indexed for MEDLINE]
14.

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZM, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA.

Neuromuscul Disord. 2004 Jul;14(7):417-20.

PMID:
15210164
[PubMed - indexed for MEDLINE]
15.

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ.

Am J Med Genet A. 2006 Oct 15;140(20):2216-22.

PMID:
16955414
[PubMed - indexed for MEDLINE]
16.

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

Merante F, Tein I, Benson L, Robinson BH.

Am J Hum Genet. 1994 Sep;55(3):437-46.

PMID:
8079988
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S.

Am J Hum Genet. 1996 May;58(5):933-9.

PMID:
8651277
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

Crimi M, Galbiati S, Perini MP, Bordoni A, Malferrari G, Sciacco M, Biunno I, Strazzer S, Moggio M, Bresolin N, Comi GP.

Neurology. 2003 Apr 8;60(7):1200-3.

PMID:
12682337
[PubMed - indexed for MEDLINE]
19.

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M.

Ann Neurol. 1998 Jan;43(1):98-101.

PMID:
9450773
[PubMed - indexed for MEDLINE]
20.

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.

Blakely EL, Swalwell H, Petty RK, McFarland R, Turnbull DM, Taylor RW.

J Neurol. 2007 Sep;254(9):1283-5. Epub 2007 Apr 6. No abstract available.

PMID:
17410322
[PubMed - indexed for MEDLINE]
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