Skip to main content
. 2017 Jan;27(1):50–56. doi: 10.1016/j.nmd.2016.10.001

Table 1.

A summary of the patients included in the study, their mutation, age of onset and country of origin.

Family No. affected Inheritance Mean age at onset/year Origin Mutation
1 2 AD 40 England Pro39Leu
2 1 Sporadic 30 England Gly84Arg
3 2 AD 55 England Gly84Arg
4 1 AR 40 Pakistan Leu99Met
5 1 Sporadic 20 Somalia Ser135Tyr
6 4 AD 20 Poland Ser135Phe
7 6 AD 15 Canada Ser135Phe
8 2 AD 30 Gujurat Arg140Gly
9 1 AD 40 Gujurat Arg140Gly
10 2 AD 30 Gujurat Arg140Gly
11 2 AD 44 Gujurat Arg140Gly
12 1 AD 40 India Arg140Gly
13 5 AD 30 England Gln175X
14 11 AD 13 Ireland Pro182Ala