{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMyomaker, encoded by the MYMK gene (Tmem8c), is a highly conserved muscle‐specific plasma membrane protein that drives the fusion of myoblasts to form multinucleated myotubes—a critical step in skeletal muscle development, regeneration, and maintenance. This fusogenic protein is essential for proper myogenesis across species, including mouse, chick, and zebrafish, underscoring its evolutionarily conserved role in orchestrating myoblast fusion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nHuman genetic studies have shown that autosomal recessive mutations in MYMK lead to Carey‐Fineman‐Ziter syndrome, a distinct congenital myopathy characterized by profound facial weakness and additional neuromuscular abnormalities. These findings highlight that even a partial loss of Myomaker function disrupts the normal fusion process critical for muscle formation, thereby expanding the spectrum of myopathies associated with cell–cell fusion deficits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurther insights into myoblast fusion have revealed that Myomaker functions cooperatively with another muscle‐specific fusogenic regulator, Myomixer (also called Myomerger or Minion). Together, these proteins not only mediate the membrane events required for cell–cell fusion during myogenesis but also hold potential as molecular targets for novel cell therapy approaches aimed at enhancing muscle regeneration and treating muscle degenerative diseases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms16077"}], "href": "https://doi.org/10.1038/ncomms16077"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28681861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28681861"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Bide Chen, Wenjing You, Yizhen Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The regulatory role of Myomaker and Myomixer-Myomerger-Minion in muscle development and regeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-019-03341-9"}], "href": "https://doi.org/10.1007/s00018-019-03341-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31642939"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31642939"}]}]}]}