Table 2.

Examples of diseases associated with Cav or Cavin mutations

Disease	Clinical Features	Mutated Protein	References
Berardinelli-Seip Congenital Generalized Lipodystrophy types 3 (Cav1) and 4 (Cavin1)	Lack of adipose tissue, hypertriglyceridemia, insulin resistance, diabetes mellitus, hypertrophic cardiomyopathy, hepatic steatosis	Cav1, Cavin1	(19, 161)
Pulmonary arterial hypertension	Pulmonary vascular remodeling and proliferation, high pulmonary arterial blood pressure, right ventricular failure	Cav1	(7)
Limb-girdle muscular dystrophy type 1C	Symmetric, progressive, proximal weakness of the limb-girdle muscles, myoglobinuria, myotonia, elevated serum creatine kinase	Cav3	(119)
Rippling muscle disease	Mechanically triggered contractions of skeletal muscle; subsequent electrically silent muscle contraction cascades	Cav3	(89)
Long QT syndrome	Extended Q–T interval on electrocardiogram, arrhythmias, ventricular fibrillation	Cav3, Cavin1	(161)
Sudden infant death syndrome	Sudden death of an infant unexplained by medical history or autopsy	Cav3	(92)
Hypertrophic or dilated cardiomyopathy	Thickened myocardium, nonischemic cardiomyopathy, reduced cardiac function	Cav3, Cavin1, Cavin4	(92, 161, 171)
Cancer (implicated)	Breast, prostate, ovarian, and pancreatic	Cav1	(65, 105, 146)