diseaseasacauseofhypertrophic
cardiomyopathy:Asystematicsurvey.Heart.
2004;90:842–846.
256.SugieK,YamamotoA,MurayamaK,etal.
Clinicopathologicalfeaturesofgenetically
confirmeddanondisease.Neurology.
2002;58:1773–1778.
257.D'SouzaRS,LevandowskiC,SlavovD,etal.
Danondisease:Clinicalfeatures,evaluation,and
management.CircHeartFail.2014;7:843–849.
258.BoucekD,JirikowicJ,TaylorM.Naturalhistory
ofDanondisease.GenetMed.2011;13:563–568.
259.CuervoAM,GomesAV,BarnesJA,DiceJF.
Selectivedegradationofannexinsbychaperonemediatedautophagy.JBiolChem.
2000;275:33329–33335.
260.MajerF,PelakO,KalinaT,etal.Mosaictissue
distributionofthetandemduplicationof
LAMP2exons4and5demonstratesthelimitsof
danondiseasecellularandmolecular
diagnostics.JInheritMetabDis.2014;37:117–
124.
261.KoneckiDS,FoetischK,ZimmerKP,Schlotter
M,Lichter-KoneckiU.Analternativelyspliced
formofthehumanlysosome-associated
membraneprotein-2geneisexpressedina
tissue-specificmanner.BiochemBiophysRes
Commun.1995;215:757–767.
262.FujiwaraY,FurutaA,KikuchiH,etal.
Discoveryofanoveltypeofautophagytargeting
RNA.Autophagy.2013;9:403–409.
263.NishinoI,FuJ,TanjiK,etal.2deficiency
causesX-linkedvacuolarcardiomyopathyand
myopathy(Danondisease).Nature.
2000;406:906–910.
264.MurakamiN,GotoY,ItohM,etal.Sarcolemmal
indentationincardiomyopathywithmental
retardationandvacuolarmyopathy.
NeuromusculDisord.1995;5:149–155.
265.MianiD,NuciforaG,PiccoliG,ProclemerA,
BadanoLP.IncrementalvalueofthreedimensionalstrainimaginginDanondisease.
EurHeartJCardiovascImaging.2012;13:804.
266.BalmerC,BallhausenD,BosshardNU,etal.
FamilialX-linkedcardiomyopathy(Danon
disease):Diagnosticconfirmationbymutation
analysisoftheLAMP2gene.EurJPediatr.
2005;164:509–514.
267.RigaudC,LebreAS,TouraineR,etal.Natural
historyofBarthsyndrome:Anationalcohort
studyof22patients.OrphanetJRareDis.
2013;8:70.
268.BarthPG,ScholteHR,BerdenJA,etal.AnXlinkedmitochondrialdiseaseaffectingcardiac
muscle,skeletalmuscleandneutrophil
leucocytes.JNeurolSci.1983;62:327–355.
269.SpencerCT,BryantRM,DayJ,etal.Cardiac
andclinicalphenotypeinBarthsyndrome.
Pediatrics.2006;118:e337–e346.
270.AcehanD,XuY,StokesDL,SchlameM.
Comparisonoflymphoblastmitochondriafrom
normalsubjectsandpatientswithBarth
syndromeusingelectronmicroscopic
tomography.LabInvest.2007;87:40–48.
271.XuY,SutachanJJ,PleskenH,KelleyRI,
SchlameM.Characterizationoflymphoblast
mitochondriafrompatientswithBarth
syndrome.LabInvest.2005;85:823–830.
272.SandlersY,MercierK,PathmasiriW,etal.
Metabolomicsrevealsnewmechanismsfor
pathogenesisinBarthsyndromeandintroduces
novelrolesforcardiolipinincellularfunction.
PLoSONE.2016;11[e0151802].
273.HsuP,ShiY.Regulationofautophagyby
mitochondrialphospholipidsinhealthand
diseases.BiochimBiophysActa.
2017;1862:114–129.
274.Precisionmedicine.HelpMeUnderstand
Genetics.[GeneticsHomeReference]
2017:220–229.
275.DiMasiJA,GrabowskiHG,HansenRW.