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. 2021 Apr 26;7(3):e589. doi: 10.1212/NXG.0000000000000589

Figure 1. Homozygous Splice Site TNNT3 Variants Cause a Severe Congenital Myopathy.

Figure 1

(A) Family pedigree. The proband is the only affected child of 2 unrelated parents of Latin American descent (father's origin: Mexico; mother's origin: Argentina). Exome sequencing identified a homozygous TNNT3 c.481-1G>A variant in the proband. His parents were not available for testing. (B) Sanger sequencing confirming the genotype determined by exome sequencing in the proband. (C) X-ray showing severe neuromuscular scoliosis. (D) Muscle histology of the proband at age 4 years. H&E staining (D.a) demonstrates fiber size variability, fatty infiltration, and increased perimysial and endomysial connective tissue. Gomori trichrome staining (D.b, D.c) failed to identify nemaline rods. (D.a, D.b) 100× magnification, (D.c) 200× magnification.