Associated Papers
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Madrigal I et al.
Neuropathology and Applied Neurobiology, 2025
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft G et al.
Human Molecular Genetics, 2018
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