Article
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
Human genetics - 1 May 2002
Barthélémy Cyrille, de Baulny Hélène Ogier, Lombès Anne
Abstract excerpt
Clinical presentation of the patients with mitochondrial DNA depletion is quite diverse and is suggestive of genetic heterogeneity. Autosomal recessive inheritance of the disease appears likely, thus implying the nuclear origin of the disease. This has been demonstrated recently in large families with neonatal presentation of the disease. Here, we report upon a family with one child having a late-onset disease...
Topics
- Age of Onset
- Base Sequence
- Cell Nucleus
- DNA, Mitochondrial
- Electron Transport Complex IV
- Extrachromosomal Inheritance
- Female
- Humans
- Kidney
- Male
- Mitochondria
- Molecular Sequence Data
- Muscle, Skeletal
- Muscular Diseases
- Mutation
- Organ Specificity
- Pedigree
- Polymerase Chain Reaction