Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Table 2 Demographic information and reported clinical presentations of eight patients with causal variants in GAA

Patient	Sex	Ethnicity	Variant 1	Variant 2	Pace of progression	Onset	Serum creatine kinase	Weakness	Respiratory insufficiency	Referred for treatment
3	Male	German	c.2331 + 2 T > A	c.-32-13 T > G	Slow progression	Young adult	Increased less than 10×	Yes	No	Yes
5	Male	Romanian	c.2066_2070dupAGCCG	c.-32-13 T > G	Slow progression	Middle age	Increased more than 10×	Yes	No	Yes
7	Female	Serbian	c.2269C > T	c.-32-13 T > G	Slow progression	Middle age	Increased less than 10×	Yes	No	No
8	Female	Serbian	c.2051C > G	c.-32-13 T > G	Slow progression	Late onset	Normal	Yes	No	No
17	Male	Caucasian	c.1192delC	c.2716G > A	Progressive	Young adult	Normal	Yes	Yes	Yes (now ceased)
18	Female	White British	c.525delT	c.-32-13 T > G	Slow progression	Middle age	Increased more than 10×	Yes	No	Yes
32	Male	Caucasian	c.525delT	c.-32-13 T > G	Non-progressive	Childhood	Increased less than 10×	No	No	Yes
35	Male	Caucasian	c.569G > A	c.2020C > G	Progressive	Young adult	Increased less than 10×	Yes	No	Yes

ISSN: 1750-1172