Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. [electronic resource]
- Clinical research in cardiology : official journal of the German Cardiac Society Dec 2011
- 1087-93 p. digital
Publication Type: Case Reports; Journal Article
1861-0692
10.1007/s00392-011-0345-9 doi
Age of Onset Base Sequence Cardiomyopathies--diagnosis Cardiomyopathy, Dilated Child Child, Preschool DNA Mutational Analysis Desmoplakins--genetics Fatal Outcome Frameshift Mutation Genetic Predisposition to Disease Hair Diseases--diagnosis Heart Failure--genetics Homozygote Humans Isolated Noncompaction of the Ventricular Myocardium--diagnosis Keratoderma, Palmoplantar--diagnosis Male Molecular Sequence Data Pedigree Phenotype Sequence Deletion Severity of Illness Index