Table 1.

Characteristics of the patients

#	Gender	Age at examination	Age at onset	Mutation
1	M	54	43	del 2–17
2	M	63	46	c.1310delTATAA
3	M	46	30	c.1728+1G>A
4	M	40	38	c.1728+1G>A
5	F	65	50	del 1–17
6	M	44	35	c.373G>T
7	M	74	25	del 8–16
8	M	48	17	del 8–16
9	M	41	33	IVS11+3delAAGT
10	F	61	45	IVS11+3delAAGT