Skip to main content
. Author manuscript; available in PMC: 2022 Jul 1.
Published in final edited form as: Am J Med Genet A. 2021 May 1;185(7):2190–2197. doi: 10.1002/ajmg.a.62219

FIGURE 2.

FIGURE 2

Nerve and muscle from an infant with biallelic ASCC1 variants. While sural nerve demonstrated a normal number of myelinated and nonmyelinated axons (A, red = myelin protein zero and green = neurofilament, B = neurofilament plus Gomori trichrome [GT]), there were multiple intramuscular nerves (arrows in C and D) with a reduced number of myelinated axons on Verhoeff-Von Gieson staining (C), and neuromuscular junctions showed normal staining intensity but varied from normal (black circle) to reduced (white circle) in size on nonspecific esterase (d). H&E staining of quadriceps muscle demonstrated diffuse muscle fiber smallness (e) with marked type 2 predominance and rare scattered, often larger type 1 fibers (arrows) on ATPase pH 4.3 (f). While there were no clear morphologic abnormalities or rods on GT (g), ultrastructure analysis of muscle showed disorganized myofibrils and a few instances of Z-band enlargement (arrows, h). Black scale bar (panel e) = 50 μM in b, e, f; 20 μM in c, d, g; and 800 nM in h