Williams, Tatjana

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