Article
Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.
Neuromuscular disorders : NMD - 1 Apr 2009
DiFabio Roberto, Santorelli Filippo M, Nola Giuseppe, Cricchi Federica, Masi Roberto, Ingrosso Angelo, Fattori Fabiana, Carrozzo Rosalba, Vanacore Nicola, Pierelli Francesco, Ralli Giovanni, Casali Carlo
Abstract excerpt
Hearing loss is relatively common in mtDNA-related disorders. While auditory function has been assessed fully in the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, few studies have investigated the degree of progressive hearing deficit in individuals bearing other mtDNA mutations. We performed a 4-year clinical and audiological follow up in a family carrying the 8363G>A...
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