Immunohistochemical and ultrastructural abnormalities in muscle from a patient with sensorineural hearing loss related to a 1555 A-to-G mitochondrial mutation.

Abstract excerpt

Genetic studies indicate that hereditary susceptibility of the inner ear to aminoglycoside antibiotic toxicity is caused by a nucleotide 1555 A-to-G mutation in the mitochondrial 12S rRNA gene. Although the phenotype associated with this mutation is nonsyndromic hearing loss, the possibility remains that there could be effects on other tissues that, like the inner ear, contain numerous mitochondria, particularly...

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