Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling
Figure 1
(a) Case 1 (P2): I-1, I-2, II-2, and II-3 were proband’s father, mother, younger sister, and younger brother, and II-1 was DM1 patient. Square = male; circle = female; black symbol = patient (II-1); and black dots in symbols represent asymptomatic carriers (proband’s mother, I-2, and younger sister, II-2). (b) Case 2 (P7): I-2, III-2, and III-3 all were normal and II-1, II-3, II-4, and III-1 were asymptomatic carriers. (c) Case 3 (P8): II-2 was DM1 patient and III-1 (first daughter) was asymptomatic carrier for DM1. (d) Case 4 (P10) screening: all relatives of the proband were normal for disease. (e) Case 5 (P13): proband father (I-1) was asymptomatic while all were normal for disease.
