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Article

[Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness].

Revista medica de Chile - 1 Mar 2013

Cataldo Luis Rodrigo, Olmos Pablo, Valerie Smalley Susan, Díez Alberto, Parada Alejandra, Gejman Roger, Fadic Ricardo, Santos José Luis

Abstract excerpt

Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion of mutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The identification of MIDD allows a corred treatment with insulin avoiding drugs that may interfere with mitochondrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23900320
DOI: 10.4067/S0034-98872013000300004

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