Table 2. Histological findings of biopsy samples.

Family No.—patient	Site of biopsy	Atrophic change	Group atrophy	Rimmed vacuoles	Fibrosis/adipose tissue replacement	Necrosis/phagocytosis	Degeneration/regeneration	Inclusion by light mic	Nuclear clumps	Angular atrophic fibers	Other
1	Lt biceps	Moderate	Yes	Many	No/no	No/no	No	No	No	No
2	Lt gastrocnemius	Mild	No	Few scattered	No/no	No/no	No	No	Few	Yes	Fiber-type grouping
3	Lt gluteus maximus	Moderate	Yes	Yes	Slight/no	No/few	Yes	Few	Yes	Yes
4	Rt biceps	Moderate	Yes	Many	Yes/no	Rare/rare	Rare	Few	Yes	Yes
5	Lt biceps	Mild	No	Rare (only one)	No/no	No/rare	Rare	No	No	Yes, many
6	Lt ant tibialis	Moderate	Yes	Many	Yes/no	No/few	Few	Yes	Yes	Yes	Cytoplasmic discoloration on TG and CR
7b	Lt ant tibialis	Severe	Yes	Many	Yes/no	No/no	Yes	Yes	Yes	Yes
8	Lt deltoid	Mild	No	Few scattered	No/no	No/no	No	No	No	Rare	Uniform type 1 fibers
9c	Rt ant tibialis	Severe	Yes	Many	Yes/slight	No/no	Yes	Yes	Yes	Yes	Round vacuoles
10a	Lt biceps	Mild	Yes (small group)	Some scattered	Slight/no	No/no	Few	No	Yes	Yes
11b	Lt biceps	Severe	Yes	Yes	Yes/no	No/few	Yes	Yes	Yes	Few	Resembling SMA in H&E

Abbreviations: ant, anterior; H&E, hematoxylin and eosin stain; light mic, light microscope; Lt, left; Rt, right; SMA, spinal muscular atrophy.