Overview of included studies for PxMD-CACNA1A:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Jouvenceau, 2001 Case report/Case series 1 n.a. 100% 8 p.Arg1819*: het
Scoggan, 2001 Family study 2 n.a. 50% 8(+/-8) p.Val1617Serfs*7: het
p.Ser940Glnfs*128: comp. het.
Julien, 2001 Case report/Case series 1 n.a. 100% 66 p.Gly13Arg: het
Vahedi, 2000 Case report/Case series 1 C 0% n.a. p.Tyr1385Cys: het
Battistini, 1999 Family study 2 C 0% 59(+/-2) p.Arg583Gln: het
Yue, 1998 Case report/Case series 1 n.a. 100% 2 p.Arg1278*: het
Yue, 1997 Family study 4 n.a. 50% 13(+/-6) p.Gly293Arg: het
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