Article
The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.
Brain and behavior - 1 Dec 2017
Kytövuori Laura, Gardberg Maria, Majamaa Kari, Martikainen Mika H
Abstract excerpt
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds. Materials and Methods: We describe the clinical, genetic, and...
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