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

• Main Authors: Hongyang Wang (Author), Li Wang (Author), Ju Yang (Author), Linwei Yin (Author), Lan Lan (Author), Jin Li (Author), Qiujing Zhang (Author), Dayong Wang (Author), Jing Guan (Author), Qiuju Wang (Author)
• Formato: Libro
• Publicado: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract 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 metabol...