Article
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve. Supplement - 1 Jan 1995
Rötig A, Bourgeron T, Rustin P, Munnich A
Abstract excerpt
Pearson syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson syndrome. Skin fibroblasts and lymphocytes harbored,...
Topics
- Anemia, Sideroblastic
- B-Lymphocytes
- Base Sequence
- Chromosome Deletion
- DNA, Mitochondrial
- Electron Transport Complex IV
- Fibroblasts
- Herpesvirus 4, Human
- Humans
- Lymphocyte Activation
- Molecular Sequence Data