AbstractAn important feature of the mitochondrial genom is the occurrence of heteroplasmy and the possibility for transmission to the offspring of various proportions of wild-type and mutated mtDNA. We have investigated the proportion of the tRNALys A8344G mutation, the tRNALeu(UUR) A3243G mutation, and the ATPase 6 T8993G mutation in patients with MERRF, MELAS, and Leigh's syndrome and their maternal relatives. The level of mutated mtDNA in the offspring of carriers of the tRNALys mutation is correlated to the level in lymphocytes in the mother and seems to be transmitted by an essentially random mechanism where only a few mtDNA copies are founders of the mitochondrial genom in the offspring and the probability that the mutation is not tra...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
AbstractMitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ∼1 in 200 of ...
An important feature of the mitochondrial genom is the occurrence of heteroplasmy and the possibilit...
Mitochondria contain their own DNA (mtDNA) which codes for 13 proteins (all subunits of the respirat...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Aim - To contribute to the establishment of a rational clinical, neuroradiological, and molecular ap...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
AbstractMitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ∼1 in 200 of ...
An important feature of the mitochondrial genom is the occurrence of heteroplasmy and the possibilit...
Mitochondria contain their own DNA (mtDNA) which codes for 13 proteins (all subunits of the respirat...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mit...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical man...
Aim - To contribute to the establishment of a rational clinical, neuroradiological, and molecular ap...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative...
AbstractMitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ∼1 in 200 of ...