Table 3.

Clinical and molecular data of 11 adult GSDII patients.

Pt, sex	Age at onset (years)	Symptoms at onset	Age at diagnosis (years)	Disease duration (years)	Enzyme residual activity in muscle	GAA gene mutation	Nutrition/excercise therapy	Months of ERT	Ambulation possible	Respiratory support
1, F	40	Lower limbs proximal weakness, episodic dyspnea	54	8	1%	IVS1/	Yes	18	No	No
2, F	15	Lower limbs proximal weakness	15	22	18%	n.a.	Yes	18	Yes	No
3, M	25	Difficulty in climbing stairs	26	5	0 (leukocytes)	G1465A/C2014T	Yes	18	No	No
4, M	30	Asthenia, cramps	38	10	30%	n.a.	No	3	Yes	No
5, M	26	Weakness	28	13	10%	n.a.	No	3	Yes	No
6, F	42	Lower limbs proximal weakness	45	24	5%	IVS1/307T>G	Yes	6	With support	No
7, F	33	Lower limbs proximal weakness	49	28	7%	IVS1/2219delTG	Yes	12	Yes	At night only
8, F	39	Lower limbs proximal weakness	42	10	12%	IVS1/546+1G>T	Yes	3	Yes	No
9, F	30	Difficulty in climbing stairs	39	9	11%	n.a.	Yes	18	Yes	No
10, F	–	Asymptomatic hyperCKemia	22	–	12%	n.a.	Yes	12	Yes	No
11, F	2nd decade	Weakness	30	15	n.a.	IVS1/C1836G	Yes	18	Yes	No