A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-br...
A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity
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United States: American Society for Clinical Investigation
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Language
English
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United States: American Society for Clinical Investigation
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Contents
Proline substitutions within the coiled-coil rod region of the β-myosin gene (MYH7) are the predominant mutations causing Laing distal myopathy (MPD1), an autosomal dominant disorder characterized by progressive weakness of distal/proximal muscles. We report that the MDP1 mutation R1500P, studied in what we believe to be the first mouse model for t...
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Full title
A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11060730
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11060730
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ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI172599
