The diagnostic laboratory undertook analysis of limb girdle muscular dystrophy (LGMD) genes and found no sequence variants for CAPN3; the autosomal recessive LGMD genes, FKRP, DYSF, TCAP, TRIM32, TTN, SGCA, SGCB, SGCE and SGCG. A heterozygous change was found in ANO5 exon 15 (undocumented variant of uncertain clinical significance). The gene discussed is TTN; the disease is limb-girdle muscular dystrophy.