Caveolin-Related Disease

Cav1:

Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome ((c.424C>T (p. Q142*) and c.479_480delTT (p.F160*))

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome (Phe160X)

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal. (P158PfsX22)

Cav3:

Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association