Article
Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation.
Irish journal of medical science - 1 Apr 2024
Zhang Ting, Su Renjie, Xiang Wen, Wang Wenbin
Abstract excerpt
BACKGROUND: Maternally inherited non-syndromic hearing loss is linked with mitochondrial DNA mutations. AIM: This investigation demonstrates the features of a Chinese pedigree suffering from maternally inherited non-syndromic hearing loss. METHODS: Biochemical characterizations included the measurements ofprotein synthesis levels, membrane potential, and the synthesis of reactive oxygen species (ROS) and...
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