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Table 1 Clinical and biochemical analysis information of 17 patients of PD and 2 individuals with a single variant

From: Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Subject

Age

Sex

Symptoms or signs

α-Glucosidase activity

DBS

Lymphocytes

Variant 1

Variant 2

NR:>0.75 µmol/Lh

NR:>0.15 nmol/m.n/mgprot

#1

0

M

1, FM

0.5

N/A

c.236_246delCCACACAGTGC

c.236_246delCCACACAGTGC

#2

7

F

A, FM

0.12

0.01

c.-32-13T>C

c.1396_1397insG

#3

9

F

A, FM

0.15

0.07

c.-32-13T>C

c.1396_1397insG

#4

11

F

1, 2, 3

0.16

0.03

c.-32-13T>C

c.1831G>A

#5

17

F

2, 3, 4, B

0.37

0.02

c.1328A>T

c.1328A>T

#6

19

M

A, F

0.37

0.05

c.-32-13T>C

c.281_282delCT

#7

31

M

2,3

0.27

0.05

c.-32-13T>C

c.1655T>C

#8

32

F

2,3

0.3

0.09

c.-32-13T>C

c.925G>A

#9

44

F

1,8

0.34

N/A

c.-32-13T>C

c.2819C>A

#10

46

M

3, 4, 5

0.36

0.00

c.-32-13T>C

c.236_246delCCACACAGTGC

#11

51

M

2, 3, 6, 7

0.21

0.04

c.-32-13T>C

c.2104C>T

#12

52

M

3,8

0.48

0.01

c.-32-13T>C

c.1889-1G>A

#13

57

F

3, 4, 9

0.37

0.01

c.-32-13T>C

c.2237G>C

#14

58

F

3,5

0.33

0.10

c.-32-13T>C

c.-32-13T>C

#15

58

M

2,3,4

0.31

0.11

c.-32-13T>C

c.655G>A

#16

59

M

2, 3, 8

0.17

0.01

c.-32-13T>C

c.-32-13T>C

#17

64

M

2, 3, 6, 7

0.54

0.10

c.-32-13T>C

c.875A>G

#18

79

F

A, FM

0.65

0.11

c.854C>G

–

#19

63

M

2, 3

0.47

0.06

c.2065G>A

–

  1. F, female; M, male; B, biopsy; FM, family member; A, asymptomatic; 1, cardiomyopathy; 2, hyperkalemia; 3, muscle weakness; 4, exercise intolerance; 5, hypotonia; 6, myalgia; 7, dysphagia; 8, respiratory distress; 9, dyspnoea
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172