CAV1 and lipodystrophy: In addition to Cav1-P132L, in recent years several additional disease-associated mutants of Cav1 have been identified, including one homozygous null mutation and three heterozygous frameshift mutations in the Cav1 gene identified in patients with pulmonary arterial hypertension (PAH), lipodystrophy, or both (Kim et al., 2008; Austin et al., 2012; Garg et al., 2015; Schrauwen et al., 2015).