Co‐existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome‐like symptoms

Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

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Co‐existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome‐like symptoms

Cited by 4 publications

References 15 publications

WITHDRAWN: A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression

WITHDRAWN: A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression

Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression

Pearson syndrome

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