Article
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
American journal of human genetics - 5 Jul 2018
Di Gioia Silvio Alessandro, Shaaban Sherin, Tüysüz Beyhan, Elcioglu Nursel H, Chan Wai-Man, Robson Caroline D, Ecklund Kirsten, Gilette Nicole M, Hamzaoglu Azmi, Tayfun Gulsen Akay, Traboulsi Elias I, Engle Elizabeth C
Abstract excerpt
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral...
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