Associated Papers
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G et al.
Jci Insight, 2023
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Dabaj I et al.
Muscle & Nerve, 2018
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C et al.
Orphanet Journal of Rare Diseases, 2016
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
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