| Main clinical features
|
combines the phenotype of classic Berardinelli-Seip lipodystrophy (269700) with muscular dystrophy and cardiac conduction anomalies
congenital generalized lipodystrophy as well as striking abnormalities in both skeletal and nonskeletal muscle, including reduced exercise tolerance and percussion myoedema, long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias
cardiac abnormalities with cardiac hypertrophy and arrhythmias were features later in childhood, including a history of sudden death, impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability
lack more than 97 p100 of caveolae |