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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Detalles Bibliográficos
Autores principales: Kytövuori, Laura, Gardberg, Maria, Majamaa, Kari, Martikainen, Mika H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745241/
https://www.ncbi.nlm.nih.gov/pubmed/29299381
http://dx.doi.org/10.1002/brb3.859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745241/
https://www.ncbi.nlm.nih.gov/pubmed/29299381
http://dx.doi.org/10.1002/brb3.859

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