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Article

A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness.

Archives of physiology and biochemistry - 1 Jul 2002

Maassen J A, Biberoglu S, 't Hart L M, Bakker E, de Knijff P

Abstract excerpt

A female individual with symptoms of the Maternally Inherited Diabetes and Deafness syndrome (MIDD) was diagnosed positive for the A3243G mutation in her mitochondrial DNA. Heteroplasmy levels were 18% in DNA from leucocytes and 55% in oral mucosa DNA. This finding corroborates the diagnosis of MIDD. Normally, this mutation is present in all the individuals within the maternal lineage of the pedigree. In this...

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Identifiers

PMID: 12221518
DOI: 10.1076/apab.110.3.186.8294

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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