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

Table 2

Clinical and molecular profiles of probands.

Proband	Sex	Age of onset	Clinical feature	CTG repeat expansion (P: present, A: absent)
P1	Male	30	MW, JTW, FW, hypersomnia	P
P2	Male	29	MW, FW	P
P3	Female	45	MW, JTW, FW, hypersomnia	P
P4	Male	31	MW, JTW, FW, hypersomnia	P
P5	Male	30	MW, JTW, FW	P
P6	Male	23	MW, JTW, FW, hypersomnia	P
P7	Male	17	MW, JTW, FW, hypersomnia	P
P8	Male	40	MW, JTW, hypersomnia	P
P9	Female	40	MW, JTW, FW, hypersomnia	P
P10	Male	40	MW, JTW, FW	P
P11	Male	25	MW, JTW, FW	P
P12	Male	34	MW, JTW, FW, hypersomnia	P
P13	Male	36	MW, JTW, FW, hypersomnia	P

MW: muscle wasting; JTW: jaw and temporal wasting; and FW: facial weakness.