Table 2 CAV3 mutations identified in patients affected by H-CK

N-terminal domain

 c.77G>A

p.R26Q

H-CK (s)

Carbone et al⁶²

 c.83C>T

p.P28 L

H-CK (f)

Merline et al⁶⁴

 c.99C>G

p.N33K

H-CK (s), DM

Fulizio et al⁴⁸

Scaffolding domain

 c.169G>A

p.V56M

H-CK (s), H-CK (f)

Reijneveld et al and Alias et al^{63, 65}

Membrane-spanning domain

 c.233C>A

p.T77K

H-CK (s)

Traverso et al⁴⁶

 c.233C>T

p.T77M

H-CK (s)

Alias et al⁶³