TY  - GEN
AU  - Williams,Tatjana
AU  - Machann,Wolfram
AU  - Kühler,Leif
AU  - Hamm,Henning
AU  - Müller-Höcker,Josef
AU  - Zimmer,Michael
AU  - Ertl,Georg
AU  - Ritter,Oliver
AU  - Beer,Meinrad
AU  - Schönberger,Jost
TI  - Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
SN  - 1861-0692
PY  - 2012///0319
KW  - Age of Onset
KW  - Base Sequence
KW  - Cardiomyopathies
KW  - diagnosis
KW  - Cardiomyopathy, Dilated
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Desmoplakins
KW  - genetics
KW  - Fatal Outcome
KW  - Frameshift Mutation
KW  - Genetic Predisposition to Disease
KW  - Hair Diseases
KW  - Heart Failure
KW  - Homozygote
KW  - Humans
KW  - Isolated Noncompaction of the Ventricular Myocardium
KW  - Keratoderma, Palmoplantar
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Deletion
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00392-011-0345-9
ER  -