A new transthyretin variant (Glu61Gly) associated with cardiomyopathy
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy
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Publisher
England: Informa UK Ltd
Journal title
Language
English
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Publisher
England: Informa UK Ltd
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Scope and Contents
Contents
We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome. A diagnosis of TTR-associated familial amyloidosis (ATTR) was considered after an endomyocardial biopsy revealed amyloid deposit...
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Full title
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy
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Record Identifier
TN_cdi_informahealthcare_journals_10_1080_13506120601116625
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_informahealthcare_journals_10_1080_13506120601116625
Other Identifiers
ISSN
1350-6129
E-ISSN
1744-2818
DOI
10.1080/13506120601116625
