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.
| Proband | Relation with proband | Repeat size | Status | Family 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 |
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