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The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype
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 i...
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| Publicat a: | Brain Behav |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5745241/ https://ncbi.nlm.nih.gov/pubmed/29299381 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.859 |
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