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). The gene discussed is AMPD1; the disease is sarcoglycanopathy.