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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.… Click to show full 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 has been previously associated with non‐syndromic HI in four families from different ethnic backgrounds.
Keywords:
hearing impairment;
mutation hearing;
impairment complex;
7510t mutation
Journal Title: Brain and Behavior
Year Published: 2017
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Journal Title: Brain and Behavior
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!