title: Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
authors.affiliation: Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman.
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.forename: Liza J
authors.initials: LJ
authors.lastname: McCann
authors.forename: Dominik
authors.initials: D
authors.lastname: Seelow
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Rita
authors.initials: R
authors.lastname: Barresi
authors.forename: Anne
authors.initials: A
authors.lastname: Schulze
authors.forename: Barbara
authors.initials: B
authors.lastname: Lucke
authors.forename: Susanne
authors.initials: S
authors.lastname: Lützkendorf
authors.forename: Mohsen
authors.initials: M
authors.lastname: Karbasiyan
authors.forename: Sebastian
authors.initials: S
authors.lastname: Bachmann
authors.forename: Simone
authors.initials: S
authors.lastname: Spuler
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000150:complications* / Q000235:genetics; D001483:Base Sequence; D021941:Caveolae / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D004252:DNA Mutational Analysis; D005190:Family; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000473:pathology / Q000648:ultrastructure; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009850:Oman; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C497835:CAVIN1 protein, human; D016601:RNA-Binding Proteins