I am studying Laing Distal Myopathy (MPD1), an inherited condition that causes progressive muscle weakness in the extremities and has no cure. MPD1 is caused by mutations in β-myosin, the primary ...

Inclusion body myositis (IBM) is an inflammatory myopathy causing proximal and distal muscle weakness. IBM’s cause remains ...

Recently, I have generated a transgenic mouse model for a skeletal muscle disease, the Laing distal myopathy. These mice carry a single arginine to proline mutation in the β-myosin rod domain and now ...

They showed symmetrical, non-selective proximal and distal weakness in lower and upper limbs, with velopharyngeal involvement, clinical and/or electrical signs of hypertrophic cardiomyopathy and ...