Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab
Anna
A
Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman.
Straub
Volker
V
McCann
Liza J
LJ
Seelow
Dominik
D
Varon
Raymonda
R
Barresi
Rita
R
Schulze
Anne
A
Lucke
Barbara
B
Lützkendorf
Susanne
S
Karbasiyan
Mohsen
M
Bachmann
Sebastian
S
Spuler
Simone
S
Schuelke
Markus
M
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*
C497835:CAVIN1 protein, human; D016601:RNA-Binding Proteins