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Table 2 Genotype of GYS1 mutation and histological data of the horses.

From: Gene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions

Horse PSSM disease status Genotype Histological grading Age (years) Sex Vacuolized fibers (%) Inflammation Necrosis Central nuclei Anisocytosis Lipomatosis Aggregate containing fibers (%)
10 0 GG   16 M ND       0
29 0 GG   15 M 0       0
35 0 GG   8 M 0       0
40 0 GG   8 M 0       0
56 0 GG   6 F 0       0
34 0 GG   10 M 0       0
38 PSSM GA 1 12 M 14.1 mild mild numerous mild none 2.5
54 PSSM GA 1 4 F 2.5 none none several minimal mild 2.4
12 PSSM GA 2 17 M 7.3 mild mild numerous mild mild 20.6
32 PSSM GA 2 6 M 1.4 mild none several mild none 17.0
42 PSSM GA 2 9 F ND minimal mild several mild mild 9.9
44 PSSM AA 2 17 F 21.9 mild severe several severe mild 10.5
49 PSSM AA 2 10 M 34.1 severe severe numerous severe severe 18.9
  1. Genotypes: GG = wild type, GA = heterozygous, AA = homozygous