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Table 3 Morphologic data

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

Patient

Sex

Age at biopsy (years)

Biopsied muscle

Light microscopy

Electron microscopy (EM)

HE

PAS

Immunohisto-chemistry (IHC)

Internalized nuclei

Fibrotic areas

Vacuoles

Ring fibers

Necrosis

Regeneration

Intensity

Positive vacuoles

SQSTM1/p62

Inter-myofibrillar glycogen accumulation

Autophago-somes

Autophagic structures

P1

M

55

L. Deltoid

++

++

+++

+

–

–

++

+++

NP

+

+

–

P2

F

35

L. Deltoid

+

+

+++

++

–

+

+

+++

NP

++

++

–

P3

M

28

L. Deltoid

++

+

+

++

–

–

++

++

NP

+

++

++

P4

F

59

L. Palmaris

++

++

+++

++

–

++

++

+++

NP

+

++

+

P5

F

ND

ND

++

+++

++

++

–

+

++

++

NP

+++

++

+

P6

F

ND

ND

++

++

++

+

–

–

+

++

NP

++

+

++

P7

M

40

L. Deltoid

++

+++

+++

+

–

–

+++

+++

NP

+

+

–

P8

M

33

ND

+++

+

++

++

–

+

++

++

NP

++

++

–

P9

F

53

L. Vastus lateralis

+

++

+

++

–

–

+++

+

NP

+

++

–

P10

M

6

ND

+++

++

++

+

–

–

+

++

NP

++

+

+

P11

M

22

ND

+

+++

++

–

–

–

++

++

+

+

+

+

P12

F

16

L. Biceps brachii

+

++

++

–

–

–

+++

+

+

NP

NP

NP

P13

M

ND

L. Biceps brachii

++

++

++

–

–

–

+

–

+

NP

NP

NP

P14

M

7

L. Biceps brachii

+

+

+

–

–

–

+

–

+

NP

NP

NP

P15

M

15

L. Deltoid

+

+

+

–

–

–

+++

+

+

NP

NP

NP

P16

F

3

L. Biceps brachii

+

++

+++

–

–

–

+++

++

+

NP

NP

NP

P17

M

24

L. Biceps brachii

++

+

+++

–

–

–

+

+

–

NP

NP

NP

P18

F

38

R. Rectus femoris

+++

+++

+++

–

–

–

+

+

+

NP

NP

NP

P19

M

23

L. Biceps brachii

+

+

++

–

–

–

+++

+++

+

NP

NP

NP

P20

M

53

L. Biceps brachii

++

+

+++

–

+

++

+

+

+

NP

NP

NP

P21

M

56

L. Biceps brachii

++

–

++

–

+

+

++

+

+

NP

NP

NP

P22

M

58

L. Biceps brachii

+++

+

+

++

–

–

+++

++

–

NP

NP

NP

P23

M

48

L. Biceps brachii

+++

+

+++

–

–

+

+++

++

–

NP

NP

NP

P24

F

46

L. Vastus medialis

+++

+++

+++

–

–

–

+++

++

NP

NP

NP

NP

P25

F

46

L. Vastus lateralis

+

+++

+++

–

–

+

+++

+++

NP

+

+++

–

P26

M

24

L. Vastus lateralis

+++

++

+++

–

–

+++

+++

+++

NP

+

++

–

P27

M

30

L. Vastus lateralis

+++

+++

+++

–

–

+++

+++

++

NP

+++

+

–

P28

F

49

Tibial anterior

+

+++

+++

–

–

++

+

+++

NP

+

++

–

P29

M

50

L. Vastus lateralis

++

++

++

–

–

+++

+++

++

NP

++

++

–

P30

M

49

L. Vastus lateralis

++

++

+++

+++

–

+

++

+++

NP

NP

NP

NP

  1. ND: not determined; HE: Hematoxylin and eosin; PAS: Periodic acid Schiff. +,++,+++: see Table 4. -: absence. NP: not performed