A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family

PURPOSE: To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister. METHODS: The diagnosis of mitochondrial myopathy was made based on clinical and biologic...

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Detalles Bibliográficos
Autores principales: Yan, Naihong, Cai, Shuping, Guo, Bo, Mou, Yi, Zhu, Jing, Chen, Jun, Zhang, Ting, Li, Ronghua, Liu, Xuyang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927373/
https://www.ncbi.nlm.nih.gov/pubmed/20806033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927373/
https://www.ncbi.nlm.nih.gov/pubmed/20806033

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