Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

scientific article

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

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P6179Dimensions Publication ID1044739819
P356DOI10.1186/1471-2350-14-89
P932PMC publication ID3846852
P698PubMed publication ID24024685
P5875ResearchGate publication ID256499629

P50authorAnna ArdissoneQ40131468
Marina MoraQ47504621
Cinzia BragatoQ58629978
Isabella MoroniQ98569170
P2093author name stringFlavia Blasevich
Lucia Morandi
Lorella Caffi
Maria Luisa Bianchi
Sabrina Maestrini
P2860cites workSRBC/cavin-3 is a caveolin adapter protein that regulates caveolae functionQ24317453
PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and functionQ28511660
SDPR induces membrane curvature and functions in the formation of caveolaeQ30090231
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsQ33543165
Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intoleranceQ34847724
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexesQ34988286
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleQ35093498
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophyQ37328469
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.Q42967016
Biogenesis of caveolae: stepwise assembly of large caveolin and cavin complexesQ43195594
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.Q50718959
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.Q53965197
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutationsQ55053134
Cavin fever: regulating caveolaeQ84149367
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
P304page(s)89
P577publication date2013-09-11
P1433published inBMC Medical GeneticsQ15759918
P1476titleNovel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
P478volume14