Human skeletal myopathy myosin mutations disrupt myosin head sequestration

Carrington, G; Hau, A; Kosta, S; Dugdale, HF; Muntoni, F; D'Amico, A; van den Bergh, P; Romero, NB; Malfatti, E; Vilchez, JJ; Oldfors, A; Pajusalu, S; Ounap, K; Giralt-Pujol, M; Zanoteli, E; Campbell, KS; Iwamoto, H; Peckham, M; Ochala, J

Ochala, J (通讯作者)，Univ Copenhagen, Dept Biomed Sci, Blegdamsvej 3B, DK-2200 Copenhagen N, Denmark.;Peckham, M (通讯作者)，Univ Leeds, Fac Biol Sci, Astbury Ctr Struct Mol Biol, Leeds LS2 9JT, England.

JCI INSIGHT, 2023; 8 (21):

Abstract

Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mu......

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