Case Report

Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling

Table 3

Molecular profile of the proband family members.

ProbandRelation with probandRepeat sizeStatusFamily history

Case (P2)Sister (26 y)
Father (50 y)
Mother (45 y)
40
15
35
Asymptomatic
Normal
Asymptomatic
No

Case (P7)Father (45 y)
Mother (41 y)
Aunt (50 y)
First cousin (28 y)
Second cousin (26 y)
Elder brother (20 y)
Grandmother (74 y)
35
40
50
50
10
20
10
Asymptomatic
Asymptomatic
Asymptomatic
Asymptomatic
Normal
Normal
Normal
No

Case (P8)Father (60 y)
Mother (58 y)
Wife (38 y)
Brother 1 (32 y)
Brother 2 (28 y)
Brother 3 (23 y)
Daughter 1 (18 y)
Daughter 2 (12 y)
Son 1 (17 y)
20
10
10
10
15
15
40
20
15
Normal
Normal
Normal
Normal
Normal
Normal
Asymptomatic
Normal
Normal
No

Case (P10)Father (65 y)
Mother (63 y)
Wife (36 y)
Brother 1 (41 y)
Brother 2 (36 y)
Son 1 (20 y)
Son 2 (18 y)
20
10
20
15
10
15
25
Normal
Normal
Normal
Normal
Normal
Normal
Normal
No

Case (P13)Father (80 y)
Wife (20 y)
40
20
Asymptomatic
Normal
No