Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemalin...
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. Here we rep...
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Full title
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
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TN_cdi_proquest_miscellaneous_19275543
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_19275543
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.20370
