Table 1 |
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|
Review of Gln Repeats and SCA17 Alleles of 16 Unrelated Cases. Duplicated elements are boxed, instability by maternal (m) or paternal (p) inheritance. |
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|
Gln |
Case |
Repeat Composition |
Comments |
Ref. |
|
|
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|
49–53 |
familial |
(CAG)3 (CAA)3 (CAG)41–45 CAA CAG |
instability (p) |
here |
|
63 |
sporadic |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)9 (CAA)3 (CAG)9 CAA CAG CAA (CAG)19 CAA CAG |
duplication |
[7] |
|
47 |
familial |
(CAG)3 (CAA)3 (CAG)8 CAA CAG CAA (CAG)28 CAA CAG |
[16] |
|
|
47 |
sporadic |
(CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)30 CAA CAG |
||
|
48 |
familial |
(CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)31 CAA CAG |
||
|
55 |
familial |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)16 CAA CAG CAA (CAG)16 CAA CAG |
duplication |
|
|
51 |
familial |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)31 CAA CAG |
[5] |
|
|
53 – 55 |
familial |
(CAG)3 (CAA)3 (CAG)45–47 CAA CAG |
instability (m) |
|
|
48 |
familial |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)28 CAA CAG |
reduced penetrance |
[13] |
|
47 |
sporadic |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)27 CAA CAG |
homozygous mutation |
[15] |
|
46 |
familial |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)26 CAA CAG |
[21] |
|
|
43 |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)26 CAA CAG |
[6] |
||
|
53 – 66 |
familial |
(CAG)3 (CAA)4 (CAG)44/57 CAA CAG |
instability (p) |
[14] |
|
44 |
sporadic |
(CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)24 CAA CAG |
[12] |
|
|
46 |
sporadic |
(CAG)3 (CAA)3 (CAG)11 CAA CAG CAA (CAG)24 CAA CAG |
reduced penetrance |
|
|
48 |
familial |
(CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)31 CAA CAG |
homozygous mutation |
[23] |
|
|
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|
Zühlke et al. BMC Medical Genetics 2005 6:27 doi:10.1186/1471-2350-6-27 |
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