Table 1.

Description of patients with the compound heterozygous C.-32–13 T > G variant and early-symptom onset.

Characteristics	Patient 1	Patient 2	Patient 3	Patient 4
Current age (in years)	13.3	7.53	9.11	2.52
Sex	Male	Female	Male	Female
Genotype	c.-32–13 T > G/ c.525delT	c.-32–13 T > G/ c.1827delC	c.-32–13 T > G/ c.2501_2502delCA	c.-32–13 T > G/ c.118C > T
Age at symptom onset	5 months	10 days	6 months	20 months
Age at diagnosis	10 months	15 months	24 months	26 months
Age at ERT initiation	20 months	19 months	27 months	28 months
Method of diagnosis	Muscle biopsy	Muscle biopsy	Muscle biopsy	Enzyme activity assay in blood
Antibody titers peak (last)	3200 (3200)	Undetectable	800 (〈100)	Not available
ACE genotype	I/I	Not available	Not available	I/D