Journal article icon

Journal article

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 ...

Expand abstract

Actions


Access Document


Publisher copy:
10.1093/brain/awq083

Authors


Tajsharghi, H More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Saukkonen, AM More by this author
Oldfors, A More by this author
Expand authors...
Journal:
Brain : a journal of neurology
Volume:
133
Issue:
Pt 5
Pages:
1451-1459
Publication date:
2010-05-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:db52fec9-cf08-4116-8fb2-a3143b730c5a
Source identifiers:
242130
Local pid:
pubs:242130

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP