A case series of patients with MYBPC1 gene variants featuring undulating tongue movements as myogenic tremor

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 (SMA): such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development.

Source: Pediatric Neurology - June 12, 2023 Category: Neurology Authors: Saki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, Yoshitsugu Oikawa, Yu Katata, Yukimune Okubo, Yu Abe, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Shigeo Kure, Kayoko Saito, Mitsugu Uematsu Tags: Short Communication Source Type: research