Disease mutations in striated muscle myosins.
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ABSTRACT:
SUBMITTER: Parker F
PROVIDER: S-EPMC7429545 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Disease mutations in striated muscle myosins.
Parker Francine F Peckham Michelle M
Biophysical reviews 20200710 4
Over 1000 disease-causing missense mutations have been found in human β-cardiac, α-cardiac, embryonic and adult fast myosin 2a myosin heavy chains. Most of these are found in human β-cardiac myosin heavy chain. Mutations in β-cardiac myosin cause hypertrophic cardiomyopathy predominantly, whereas those in α-cardiac are associated with many types of heart disease, of which the most common is dilated cardiomyopathy. Mutations in embryonic and fast myosin 2a affect skeletal muscle function. This re ...[more]
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