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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,...

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Source

Identifiers

PMID: 7541513
DOI: 10.1002/mus.880181431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.PMID 7541513Read ↗

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.Semantic proximity Read ↗

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion.Semantic proximity Read ↗

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletionSemantic proximity Read ↗

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.Semantic proximity Read ↗

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.Semantic proximity Read ↗

Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication.Semantic proximity Read ↗

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.Semantic proximity Read ↗

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.Semantic proximity Read ↗

Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts.Semantic proximity Read ↗

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