We present the analysis of five patients with skeletal muscle weakness for whom heterozygous mutations within ANO5 were identified by whole exome sequencing (WES).
Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy and may remain isolated or precede muscle weakness by many years.Muscle Nerve 56: 1096-1100, 2017.
This case suggests that LGMD2L may affect a broader population than has been previously thought, physicians should consider the possibility of ANO5 mutation even in patients showing elevated CK level with no apparent muscle weakness but muscle stiffness or cramps.
In the ANO5 related phenotypes the lateral head of the gastrocnemius muscle was less frequently involved in LGMD2L (n=13) and no differences in the incidence of muscle weakness was found.