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Medientyp:
E-Artikel
Titel:
Disease mutations in striated muscle myosins
Beteiligte:
Parker, Francine;
Peckham, Michelle
Erschienen:
Springer Science and Business Media LLC, 2020
Erschienen in:
Biophysical Reviews, 12 (2020) 4, Seite 887-894
Sprache:
Englisch
DOI:
10.1007/s12551-020-00721-5
ISSN:
1867-2450;
1867-2469
Entstehung:
Anmerkungen:
Beschreibung:
AbstractOver 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 review provides a short overview of the mutations in the different myosin isoforms and their disease-causing effects.