A predominant cardiac phenotype of Anderson-Fabry disease in presence of a MYBPC3 gene mutation and a LAMA4 gene mutation

Acta Cardiol. 2019 Feb;74(1):84-85. doi: 10.1080/00015385.2018.1433458. Epub 2018 Feb 7.

Authors

Dorien Laenens¹, Pieter Koopman¹, Thijs Cools¹

Affiliation

¹ a Department of Cardiology , Jessa Hospital , Hasselt , Belgium.

PMID: 29415625
DOI: 10.1080/00015385.2018.1433458

No abstract available

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Hypertrophic / etiology
Cardiomyopathy, Hypertrophic / genetics*
Cardiomyopathy, Hypertrophic / metabolism
Carrier Proteins / genetics*
Carrier Proteins / metabolism
DNA / genetics*
DNA Mutational Analysis
Echocardiography
Electrocardiography
Fabry Disease / complications
Fabry Disease / genetics*
Fabry Disease / metabolism
Heart Ventricles / diagnostic imaging*
Heart Ventricles / physiopathology
Humans
Laminin / genetics*
Laminin / metabolism
Male
Middle Aged
Mutation*
Pedigree
Phenotype

Substances

Carrier Proteins
LAMA4 protein, human
Laminin
myosin-binding protein C
DNA