These individual groups were small consisting of few or a single patient each and were comprised of sarcoglycanopathies (SGCA/SGCB/SGCD/SGCG), collagenopathies (COL6A1/COL6A2/COL6A3), anoctaminopathy (ANO5), telethoninopathy (TCAP), Pompe disease (GAA), myoadenylate deaminase deficiency myopathy (AMPD1), myotilinopathy (MYOT), laminopathy (LMNA), HSP 40 proteinopathy (DNAJB6), Emery Dreifuss muscular dystrophy (EMD), POMT1 proteinopathy (POMT1), and merosin deficient congenital muscular dystrophy (LAMA2). This evidence concerns the gene COL6A3 and Distal myotilinopathy.