A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
About this item
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Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
BackgroundProtein aggregate myopathies are increasingly recognised conditions characterised by a surplus of endogenous proteins. The molecular and mutational background for many protein aggregate myopathies has been clarified with the discovery of several underlying mutations. Familial idiopathic hyperCKaemia is a benign genetically heterogeneous c...
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Full title
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
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Record Identifier
TN_cdi_proquest_miscellaneous_1808704556
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808704556
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102882
