{Reference Type}: Journal Article
{Title}: A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
{Author}: Uneoka S;Kobayashi T;Numata-Uematsu Y;Oikawa Y;Katata Y;Okubo Y;Abe Y;Kikuchi A;Takayama J;Tamiya G;Kure S;Saito K;Uematsu M;
{Journal}: Pediatr Neurol
{Volume}: 146
{Issue}: 0
{Year}: 2023 09 12
{Factor}: 4.21
{DOI}: 10.1016/j.pediatrneurol.2023.06.002
{Abstract}: 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. The development of novel therapies for SMA has necessitated the importance of differentiating SMA from other diseases in the early infancy period. We report the characteristic tongue movements of MYBPC1 mutations, along with other clinical findings, such as positive deep tendon reflexes and normal peripheral nerve conduction velocity testing, which could help in considering other diseases as differential diagnoses.