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Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

Abstract:

Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in 9 sarcomeric protein genes. The most commonly affected is beta-myosin heavy chain (MYH7), where missense mutations cluster in the head and neck regions and directly affect motor function. Comparable mutations have not been described in the light meromyosin (LMM) region of the myosin rod, nor would these be expected to directly affect motor function. We studied 82 probands with HCM in whom no mutations had been found in MYH7 ...

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Publication status:
Published

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Publisher copy:
10.1161/hh0302.104532

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Journal:
Circulation research
Volume:
90
Issue:
3
Pages:
263-269
Publication date:
2002-02-01
DOI:
EISSN:
1524-4571
ISSN:
0009-7330
Source identifiers:
104208

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