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A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Pediatric neurology - 1 Sept 2023

Uneoka Saki, Kobayashi Tomoko, Numata-Uematsu Yurika, Oikawa Yoshitsugu, Katata Yu, Okubo Yukimune, Abe Yu, Kikuchi Atsuo, Takayama Jun, Tamiya Gen, Kure Shigeo, Saito Kayoko, Uematsu Mitsugu

Abstract excerpt

Myosin-binding protein C1 (MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C), an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres and has recently been linked to myopathy with tremor. The clinical features of MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy...

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Identifiers

PMID: 37392669
DOI: 10.1016/j.pediatrneurol.2023.06.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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