The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype
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DOI: 10.1002/brb3.859
Abstract: 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… read more here.
Keywords: hearing impairment; mutation hearing; impairment complex; 7510t mutation ... See more keywords