A Unique Case of Type-1 Facioscapulohumeral Muscular Dystrophy and Sarcomeric Hypertrophic Cardiomyopathy

Rev Esp Cardiol (Engl Ed). 2018 Sep;71(9):765-766. doi: 10.1016/j.rec.2017.06.007. Epub 2017 Jul 8.

[Article in English, Spanish]

Authors

Gustavo Lima da Silva¹, Tatiana Guimarães², Fausto J Pinto², Dulce Brito²

Affiliations

¹ Cardiology Department, Santa Maria University Hospital, Lisbon Academic Medical Center, Cardiovascular Center, University of Lisbon, Lisbon, Portugal. Electronic address: gustavolssilva@gmail.com.
² Cardiology Department, Santa Maria University Hospital, Lisbon Academic Medical Center, Cardiovascular Center, University of Lisbon, Lisbon, Portugal.

PMID: 28697927
DOI: 10.1016/j.rec.2017.06.007

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Biopsy
Cardiomyopathy, Hypertrophic / diagnosis
Cardiomyopathy, Hypertrophic / etiology*
Carrier Proteins / genetics
Carrier Proteins / metabolism
DNA / analysis
DNA Mutational Analysis
Diagnosis, Differential
Disease Progression
Female
Genetic Testing
Humans
Muscle, Skeletal / pathology*
Muscular Dystrophy, Facioscapulohumeral / complications*
Muscular Dystrophy, Facioscapulohumeral / diagnosis
Muscular Dystrophy, Facioscapulohumeral / genetics
Mutation
Myocardium / pathology*

Substances

Carrier Proteins
myosin-binding protein C
DNA