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Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

Abstract:

Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into mechanical force. It is a major determinant of the physiological properties of each of the three muscle fibre types that make up the skeletal muscles. Heterozygous dominant missense mutations in myosin heavy chain genes cause various types of cardiomyopathy and skeletal myopathy, but the effects of myosin heavy chain null mutations in humans have not previously been reported. We have identified ...

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Publisher copy:
10.1093/brain/awq083

Authors


Tajsharghi, H More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Saukkonen, AM More by this author
Oldfors, A More by this author
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Journal:
Brain
Volume:
133
Issue:
5
Pages:
1451-1459
Publication date:
2010-05-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:5b2c2dc6-1430-44d2-8728-ace5d51653b6
Source identifiers:
243646
Local pid:
pubs:243646
Language:
English
Keywords:

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