Associated Papers
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.
Rahman F et al.
European Journal of Human Genetics : Ejhg, 2025
Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.
Dugdale HF et al.
Acta Neuropathologica Communications, 2024
Molecular regulation of myocyte fusion.
Wherley TJ et al.
Current Topics in Developmental Biology, 2024
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A et al.
The Journal of Clinical Investigation, 2022
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