Table 1. Patients’ Characteristics at the Time of Diagnosis.

Patient	Sex	Age, y	Manual Muscle Testing Score	Severity Score a	Mutation	α-Glucosidase in Fibroblasts nmoles, mg.min-1	Clinical Characteristics
1	F	71	30	3	IVS1-13 T > G and 925G > A (GlyC309Arg)	0.10	Easy fatigability since early adulthood and proximal weakness by the age of 60
2	F	46	29	2,5	IVS1-13 T > G (homozygous)	0.21	Proximal weakness since late adolescence
3	M	40	37	2	IVS1-13 T > G and c.2066-2070dup.	0.26	Waddling gait since the last decade
4	F	46	34	2	IVS1-13 T > G and 2431insC (GAA ex17)	0,08	Respiratory insufficiency and proximal weakness since early adulthood
5	M	41	36	2	IVS1-13 T > G and 1293del20 (GAA ex8)	0,16	Waddling gait and respiratory insufficiency since the last decade
6	F	43	38	0	IVS1-13 T > G and 1293del20 (GAA ex8)	0,25	Asymptomatic hyperCkemia – Positive family history
7	M	41	34	2	IVS1-13 T > G and R870X, 2608C > T (GAA ex18)	0,18	Easy fatigability, respiratory insufficiency and proximal weakness since the last decade
8	M	21	40	0	IVS1-13T > G and 1943G > A (GAA ex14)	0,24	Asymptomatic hyperCkemia – Positive family history

^aSeverity score according to modified Walton scale of muscle function