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Article

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Human molecular genetics - 1 Aug 1995

Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A

Abstract excerpt

The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson syndrome and describe mitochondrial DNA...

Topics

Base Sequence
Bone Marrow Diseases
Child, Preschool
DNA, Mitochondrial
Female
Gene Rearrangement
Humans
Infant
Kearns-Sayre Syndrome
Male
Microsatellite Repeats
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pancreatic Diseases

Phenotype

Sequence Deletion

Syndrome

Source

Identifiers

PMID: 7581370
DOI: 10.1093/hmg/4.8.1327

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7581370-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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