De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev, Artem
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. [electronic resource] - Human mutation 09 2018 - 1161-1172 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23559 doi
Adolescent
Cardiomyopathy, Restrictive--genetics
Child, Preschool
Congenital Abnormalities--genetics
DNA Mutational Analysis
Female
Filamins--genetics
Humans
Infant
Infant, Newborn
Male
Muscular Diseases--genetics
Mutation
Pedigree
Phenotype
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. [electronic resource] - Human mutation 09 2018 - 1161-1172 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23559 doi
Adolescent
Cardiomyopathy, Restrictive--genetics
Child, Preschool
Congenital Abnormalities--genetics
DNA Mutational Analysis
Female
Filamins--genetics
Humans
Infant
Infant, Newborn
Male
Muscular Diseases--genetics
Mutation
Pedigree
Phenotype