TABLE 2.

Summary of cohort characteristics. Note that patient 10 was excluded from the study due to a lack of data.

Patient/Sex	GAA genotype	Onset age (y)	Diagnosis age (y)	Primary symptoms
1/F	c.-32-13T>G	48	56	Muscle weakness, atrophy, myalgia, gait disturbance, poor endurance
	c.1796C>A
2/F	c.-32-13T>G	32	34	Muscle weakness, myalgia, dyspnea, gait disturbance, fatigue, dysphagia
	c.1445C>G
3/F	c.2481 + 110_2646 + 39del	40	43	Muscle weakness, atrophy, fatigue, dyspnea, lower back pain
	c.2294A>G
4/M	c.-32-13T>G	20	77	Muscle weakness, gait disturbance, loss of agility, fatigue
	c.1655T>C
5/F	c.-32-13T>G	30	48	Muscle weakness, loss of balance, hypophonia, fatigue, dysphagia
	c.1548G>A
6/F	c.-32-13T>G	51	71	Muscle weakness, dyspnea, gait disturbance, loss of balance, fatigue
	c.1943G>A
7/F	c.525delT	47	67	Muscle weakness, dyspnea, fatigue, dysphagia
	c.336–13T>G
8/M	c.-32-13T>G	27	44	Muscle weakness, dyspnea, gait disturbance, scoliosis, fatigue
	c.1827delC
9/M	c.-32-13T>G	43	43	Muscle weakness, lower back pain, fatigue
	c.1143delC
11/F	c.-32-13T>G	16	16	Muscle weakness, myalgia
	c.2236T>C
12/F	c.-32-13T>G	49	49	Muscle weakness, dyspnea, gait disturbance, scoliosis, dysphagia
	c.1572C>A
13/F	c.1655T>C	<1	1.75	Delayed motor milestones, poor head control, low tone, wheelchair and ventilator dependence
	c.896T>G
14/M	c.-32-13T>G	15	46	Muscle weakness, myalgia, lower back pain, fatigue
	c.1942G>A
15/M	c.-32-13T>G	2	2.5	Muscle weakness, myalgia, gait disturbance, delayed motor skills, fatigue
	c.1051delG
16/M	c.-32-13T>G	2	2	Muscle weakness, gait disturbance, delayed motor skills, scoliosis
	c.2501_2502delCA