Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PGEN.1000874
P932PMC publication ID2837386
P698PubMed publication ID20300641
P5875ResearchGate publication ID42346189

P50authorDominik SeelowQ57081949
Volker StraubQ59878147
Simone SpulerQ21264693
Anna RajabQ28324733
P2093author name stringMarkus Schuelke
Sebastian Bachmann
Susanne Lützkendorf
Rita Barresi
Mohsen Karbasiyan
Raymonda Varon
Liza J McCann
Anne Schulze
Barbara Lucke
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Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.Q55047884
Congenital long QT syndromeQ58010712
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Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instabilityQ81775156
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytesQ24298730
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseQ28204157
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Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intoleranceQ34847724
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibersQ36059499
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Targeted disruption of the neuronal nitric oxide synthase gene.Q52507290
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue3
P921main subjectcongenital disorderQ727096
congenital generalized lipodystrophyQ3242224
P304page(s)e1000874
P577publication date2010-03-12
P1433published inPLOS GeneticsQ1893441
P1476titleFatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
P478volume6

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