Article
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
JCI insight - 8 Nov 2023
Carrington Glenn, Hau Abbi, Kosta Sarah, Dugdale Hannah F, Muntoni Francesco, D'Amico Adele, Van den Bergh Peter, Romero Norma B, Malfatti Edoardo, Vilchez Juan Jesus, Oldfors Anders, Pajusalu Sander, Õunap Katrin, Giralt-Pujol Marta, Zanoteli Edmar, Campbell Kenneth S, Iwamoto Hiroyuki, Peckham Michelle, Ochala Julien
Abstract excerpt
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies termed myosinopathies. Here, we used multiple approaches to analyze the effects of common MYH7 and MYH2 mutations in the light meromyosin (LMM) region of myosin....
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