A mitochondrial DNA tRNAVal point mutation associated with adult-onset Leigh syndrome

Neurology ◽  
1997 ◽  
Vol 49 (2) ◽  
pp. 589-592 ◽  
Author(s):  
R. M. Chalmers ◽  
P. J. Lamont ◽  
I. Nelson ◽  
D. W. Ellison ◽  
N. H. Thomas ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Leigh Syndrome ◽  
Adult Onset

Mitochondrial DNA Point Mutation T9176C in Leigh Syndrome

2000 ◽  
Vol 15 (12) ◽  
pp. 830-833 ◽  
Author(s):  
Callum J. Wilson ◽  
Nicholas W. Wood ◽  
James V. Leonard ◽  
Robert Surtees
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Leigh Syndrome

Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation

2014 ◽  
Vol 21 (11) ◽  
pp. 2009-2011 ◽  
Author(s):  
Jee-Young Han ◽  
Jung-Joon Sung ◽  
Hong-Kyun Park ◽  
Byung-Nam Yoon ◽  
Kwang-Woo Lee
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Syndrome ◽  
Adult Onset

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)

1994 ◽  
Vol 50 (3) ◽  
pp. 265-271 ◽  
Author(s):  
Gregory M. Pastores ◽  
Filippo M. Santorelli ◽  
Sara Shanske ◽  
Bruce D. Gelb ◽  
Billie Fyfe ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Hypertrophic Cardiomyopathy ◽  
Point Mutation ◽  
Leigh Syndrome

scholarly journals Detection and Quantification of the Age-Related Point Mutation A189G in the Human Mitochondrial DNA

2006 ◽  
Vol 51 (4) ◽  
pp. 865-873 ◽  
Author(s):  
Catherine Theves ◽  
Christine Keyser-Tracqui ◽  
Eric Crubezy ◽  
Jean-Pierre Salles ◽  
Bertrand Ludes ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Human Mitochondrial Dna ◽  
Age Related ◽  
Related Point ◽  
Detection And Quantification

scholarly journals Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734

1998 ◽  
Vol 43 ◽  
pp. 127-127
Author(s):  
Sara Shanske ◽  
Denise Kirby ◽  
Claudio Bruno ◽  
Barbara Garavaglia ◽  
Filippo M Santorelli ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Clinical Heterogeneity

scholarly journals Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment

2018 ◽  
Vol 38 (1) ◽  
pp. 129-131 ◽  
Author(s):  
Øystein Kalsnes Jørstad ◽  
Eva Meling Ødegaard ◽  
Ketil Riddervold Heimdal ◽  
Emilia Kerty ◽  
Ketil Riddervold Heimdal ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

Neurology ◽  
1997 ◽  
Vol 49 (4) ◽  
pp. 1013-1017 ◽  
Author(s):  
C. M. Sue ◽  
P. Mitchell ◽  
D. S. Crimmins ◽  
C. Moshegov ◽  
E. Byrne ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Pigmentary Retinopathy

Ototoxicity after use of neomycin eardrops is unrelated to A1555G point mutation in mitochondrial DNA

2004 ◽  
Vol 118 (7) ◽  
pp. 546-550 ◽  
Author(s):  
Tatsuya Yamasoba ◽  
Katsunori Tsukuda
Keyword(s):  
Mitochondrial Dna ◽  
Tympanic Membrane ◽  
Point Mutation ◽  
Middle Ear ◽  
Dna Analysis ◽  
Tympanic Membrane Perforation ◽  
Mitochondrial Dna Analysis ◽  
Membrane Perforation ◽  
Inner Ear Damage ◽  
Ear Drops

Ear drops containing neomycin only rarely cause ototoxicity. The authors report on three patients with a tympanic membrane perforation who developed severe ototoxicity after use of eardrops containing 0.35 per cent neomycin. Mitochondrial DNA analysis revealed that there was no A1555G point mutation in these patients. This finding indicates that application of low concentration neomycin to the middle ear can cause severe inner ear damage even in humans who are not hyper-susceptible to aminoglycosides.

Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction

1999 ◽  
Vol 13 (3) ◽  
pp. 245-254 ◽  
Author(s):  
Sandeep Raha ◽  
Frank Merante ◽  
Eric Shoubridge ◽  
A. Tomoko Myint ◽  
Ingrid Tein ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Respiratory Chain
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