Further molecular genetic testing at age 9 for polyneuropathy, FSHD (facioscapulohumeral muscular dystrophy), and LGMD (limb-girdle muscular dystrophy) was negative (targeted testing of the CAPN3, FKRP and PMP22 genes was performed). The gene discussed is PMP22; the disease is facioscapulohumeral muscular dystrophy.