Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system
✍ Scribed by Antoon J. M. Janssen; Markus Schuelke; Jan A. M. Smeitink; Frans J. M. Trijbels; Rob C. A. Sengers; Barbara Lucke; Liesbeth T. M. Wintjes; Eva Morava; Baziel G. M. van Engelen; Bart W. Smits; Frans A. Hol; Marloes H. Siers; Henk Ter Laak; Marjo S. van der Knaap; Francjan J. Van Spronsen; Richard J. T. Rodenburg; Lambert P. van den Heuvel
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 175 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo
The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset am
We retrospectively analyzed the clinical, histological, and biochemical data of 11 children, five of which carried the maternally-inherited mitochondrial T8993C and six carrying the T8993G point mutations in the ATP synthase 6 gene. The percentage of heteroplasmy was 95% or higher in muscle and in b