000 02051 a2200577 4500
005 20250516050322.0
264 0 _c20120319
008 201203s 0 0 eng d
022 _a1861-0692
024 7 _a10.1007/s00392-011-0345-9
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWilliams, Tatjana
245 0 0 _aNovel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
_h[electronic resource]
260 _bClinical research in cardiology : official journal of the German Cardiac Society
_cDec 2011
300 _a1087-93 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAge of Onset
650 0 4 _aBase Sequence
650 0 4 _aCardiomyopathies
_xdiagnosis
650 0 4 _aCardiomyopathy, Dilated
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDesmoplakins
_xgenetics
650 0 4 _aFatal Outcome
650 0 4 _aFrameshift Mutation
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHair Diseases
_xdiagnosis
650 0 4 _aHeart Failure
_xgenetics
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aIsolated Noncompaction of the Ventricular Myocardium
_xdiagnosis
650 0 4 _aKeratoderma, Palmoplantar
_xdiagnosis
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aSequence Deletion
650 0 4 _aSeverity of Illness Index
700 1 _aMachann, Wolfram
700 1 _aKühler, Leif
700 1 _aHamm, Henning
700 1 _aMüller-Höcker, Josef
700 1 _aZimmer, Michael
700 1 _aErtl, Georg
700 1 _aRitter, Oliver
700 1 _aBeer, Meinrad
700 1 _aSchönberger, Jost
773 0 _tClinical research in cardiology : official journal of the German Cardiac Society
_gvol. 100
_gno. 12
_gp. 1087-93
856 4 0 _uhttps://doi.org/10.1007/s00392-011-0345-9
_zAvailable from publisher's website
999 _c21035992
_d21035992