Skip to main content

Table 2 Clinical features of patients

From: Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Patients

 

n = 30

 

Proportion of female (%)

 

n = 11

33%

Median current age (years)

 

n = 28

52

Median age at biopsy (years)

 

n = 27

38

Onset age

Before 1 years old

7

23,3%

First decade

8

26,7%

Second decade

3

10,0%

Third decade

2

6,7%

Fourth decade

1

3,3%

Fifth decade

3

10,0%

After 50 years old

3

10,0%

Unknown

3

10,0%

Clinical features

Asymptomatic

1

3,3%

Muscles disease (fatigability, exercise intolerance, muscle weakness)

21

70,0%

Cardiac involvement (cardiomegaly, rhythmic abnormalities)

10

33,3%

Hepatic involvement (hypoglycemia, hepatopathy)

18

60,0%

Respiratory involvement

3

10,0%

Biopsied muscle

L. biceps brachii

10

33,3%

L. vastus (medialis or lateralis)

7

23,3%

L. Deltoid

5

16,7%

L. Palmaris

1

3,3%

Tibial anterior

1

3,3%

R. Rectus femoris

1

3,3%

Unknown

5

16,7%