Myo-leukoencephalopathy in twins: Study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation

1994 ◽  
Vol 35 (3) ◽  
pp. 365-370 ◽  
Author(s):  
F. Degoul ◽  
M. Diry ◽  
A. Pou-Serradell ◽  
J. Lloreta ◽  
C. Marsac
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

A Novel Mitochondrial DNA Mutation inCOX1Leads to Strokes, Seizures, and Lactic Acidosis

2008 ◽  
Vol 39 (06) ◽  
pp. 328-334 ◽  
Author(s):  
E. W. Y. Tam ◽  
A. Feigenbaum ◽  
J. B. L. Addis ◽  
S. Blaser ◽  
N. MacKay ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1995 ◽  
Vol 18 (S14) ◽  
pp. S113-S118 ◽  
Author(s):  
Shuji Mita ◽  
Makoto Tokunaga ◽  
Toshihide Kumamoto ◽  
Makoto Uchino ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Muscle Pathology ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

2001 ◽  
Vol 9 (4) ◽  
pp. 311-315 ◽  
Author(s):  
Maurizia Grasso ◽  
Marta Diegoli ◽  
Agnese Brega ◽  
Carlo Campana ◽  
Luigi Tavazzi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dilated Cardiomyopathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Intramyocellular lipid excess in the mitochondrial disorder MELAS

2017 ◽  
Vol 3 (3) ◽  
pp. e160 ◽  
Author(s):  
Sailaja Golla ◽  
Jimin Ren ◽  
Craig R. Malloy ◽  
Juan M. Pascual
Keyword(s):  
Mitochondrial Dna ◽  
Fat Metabolism ◽  
Mitochondrial Disorder ◽  
Scientific Investigation ◽  
Resonance Spectroscopy ◽  
Lipid Deposition ◽  
Metabolic Dysfunction ◽  
Intramyocellular Lipid ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Objective:There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation.Methods:To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids.Results:In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity.Conclusions:These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation
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