Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy

2002 ◽  
Vol 25 (2) ◽  
pp. 185-188 ◽  
Author(s):  
Y. Campos ◽  
A. García ◽  
A. López ◽  
S. Jiménez ◽  
J.C. Rubio ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level

1994 ◽  
Vol 87 (4) ◽  
pp. 371-376 ◽  
Author(s):  
A. Prelle ◽  
G. Fagiolari ◽  
N. Checcarelli ◽  
M. Moggio ◽  
A. Battistel ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Single Fiber ◽  
Dna Deletions

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

1988 ◽  
Vol 154 (3) ◽  
pp. 1240-1247 ◽  
Author(s):  
Takayuki Ozawa ◽  
Makoto Yoneda ◽  
Masashi Tanaka ◽  
Kinji Ohno ◽  
Wataru Sato ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Maternal Inheritance

scholarly journals In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.

1991 ◽  
Vol 11 (4) ◽  
pp. 2236-2244 ◽  
Author(s):  
A Chomyn ◽  
G Meola ◽  
N Bresolin ◽  
S T Lai ◽  
G Scarlato ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Protein Synthesis ◽  
Human Cell ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Protein ◽  
Human Cell Lines ◽  
Mitochondrial Protein Synthesis ◽  
Direct Link ◽  
Genetic Transfer

A severe mitochondrial protein synthesis defect in myoblasts from a patient with mitochondrial myopathy was transferred with myoblast mitochondria into two genetically unrelated mitochondrial DNA (mtDNA)-less human cell lines, pointing to an mtDNA alteration as being responsible and sufficient for causing the disease. The transfer of the defect correlated with marked deficiencies in respiration and cytochrome c oxidase activity of the transformants and the presence in their mitochondria of mtDNA carrying a tRNA(Lys) mutation. Furthermore, apparently complete segregation of the defective genotype and phenotype was observed in the transformants derived from the heterogeneous proband myoblast population, suggesting that the mtDNA heteroplasmy in this population was to a large extent intercellular. The present work thus establishes a direct link between mtDNA alteration and a biochemical defect.

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies

Neurology ◽  
1991 ◽  
Vol 41 (7) ◽  
pp. 1053-1053 ◽  
Author(s):  
S. Servidei ◽  
M. Zeviani ◽  
G. Manfredi ◽  
E. Ricci ◽  
G. Silvestri ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Biochemical Studies

EARLY RETINAL INVOLVEMENT IN MITOCHONDRIAL MYOPATHY WITH MITOCHONDRIAL DNA DELETION

Retina ◽  
1994 ◽  
Vol 14 (3) ◽  
pp. 270-276 ◽  
Author(s):  
YOSHIE OTA ◽  
YOZO MIYAKE ◽  
SHINOBU AWAYA ◽  
TOSHIYUKI KUMAGAI ◽  
MASASHI TANAKA ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1991 ◽  
Vol 174 (2) ◽  
pp. 861-868 ◽  
Author(s):  
Masashi Tanaka ◽  
Hidekazu Ino ◽  
Kinji Ohno ◽  
Toshihiro Ohbayashi ◽  
Shin-ichiro Ikebe ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy

1994 ◽  
Vol 17 (7) ◽  
pp. 741-746 ◽  
Author(s):  
Shingo Kawashima ◽  
Shigeo Ohta ◽  
Yasuo Kagawa ◽  
Mitsuo Yoshida ◽  
Masatoyo Nishizawa
Keyword(s):  
Mitochondrial Dna ◽  
Tissue Distribution ◽  
Mitochondrial Myopathy ◽  
Dna Deletions
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