ANO5 and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Another patient (patient #50) with a homozygous pathogenic variant in DYSF and a heterozygous pathogenic variant in ANO5 showed phenotypes of dysferlinopathy and anoctaminopathy that are representative of both subtypes (20 years onset age, calf atrophy, CK of 6,390 IU/L, combination of proximal and distal weakness, presence of inflammation in muscle-biopsy, asymmetry of muscle weakness, weakness in dorsiflexors of ankle joints, partial foot drop) and features unusual to both (facial weakness).