Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy

BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. Th...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Hongyang, Wang, Li, Yang, Ju, Yin, Linwei, Lan, Lan, Li, Jin, Zhang, Qiujing, Wang, Dayong, Guan, Jing, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330410/
https://www.ncbi.nlm.nih.gov/pubmed/30634948
http://dx.doi.org/10.1186/s12881-018-0741-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330410/
https://www.ncbi.nlm.nih.gov/pubmed/30634948
http://dx.doi.org/10.1186/s12881-018-0741-3

Ejemplares similares