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Journal article

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Abstract:

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presen...

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Publication status:
Published

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Publisher copy:
10.1002/humu.22553

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
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Journal:
Human mutation
Volume:
35
Issue:
7
Pages:
868-879
Publication date:
2014-07-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:95321b62-c413-45d4-81cd-c9728f1b6a5f
Source identifiers:
458885
Local pid:
pubs:458885

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