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[A3243G mitochondrial DNA mutation and heterogeneous phenotypic expression].

Revista medica del Instituto Mexicano del Seguro Social - 1 Jan 2000

Harrison-Gómez Carlos, Harrison-Ragle Ashley, Macías-Hernández Alejandro, Guerrero-Sánchez Verónica

Abstract excerpt

BACKGROUND: mitochondrial DNA (DNAmt) mutations are associated with several clinical manifestations affecting different systems. They are usually underdiagnosed even with the relatively high prevalence in certain populations. The diagnosis can be established on clinical data, histopathologic studies and biochemical abnormalities in the respiratory chain, or the finding of the specific causal mutation in the...

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PMID: 19744395

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