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Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic C...

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic C...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1372350797

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

About this item

Full title

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Publisher

United States: Public Library of Science

Journal title

PloS one, 2013-06, Vol.8 (6), p.e67087-e67087

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved.
A pedigree was identified with suspected autosomal recessive transmission of HC...

Alternative Titles

Full title

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1372350797

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1372350797

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0067087

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