Ontology highlight
ABSTRACT:
SUBMITTER: Di Gioia SA
PROVIDER: S-EPMC6035164 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Di Gioia Silvio Alessandro SA Shaaban Sherin S Tüysüz Beyhan B Elcioglu Nursel H NH Chan Wai-Man WM Robson Caroline D CD Ecklund Kirsten K Gilette Nicole M NM Hamzaoglu Azmi A Tayfun Gulsen Akay GA Traboulsi Elias I EI Engle Elizabeth C EC
American journal of human genetics 20180607 1
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 and rib anomalies. The clinical phenotype overlaps strikingly with that reported in ...[more]