DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: This unusual patient had one pathogenic variant in the ANO5 gene along with a homozygous pathogenic variant in DYSF. Interestingly, this patient (patient #50 in Table 5) showed a phenotype common to both dysferlinopathy and anoctaminopathy (high CK, proximal and distal muscle weakness, asymmetrical weakness) and features unusual to both types (facial weakness).