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Disease: Myopathy- congenital nonprogressive with Moebius and Robin sequences

  • A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
  • Can we talk about myoblast fusion?
  • Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis
  • Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
  • Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
  • Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
  • Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle
  • Moebius sequence and autism spectrum disorders--less frequently associated than formerly thought
  • Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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