PLEC and skin disorder: In addition to LGMDR17 caused by mutations in exon 1f, one patient suffering from severe MD with no obvious skin disorder was diagnosed with LGMDR17 due to compound heterozygous PLEC mutations in exons 31 and 32 (c.5995C > T, p.R1999W; c.9940T > A, p.F3314I), comparable to “classical” EBS-MD-causing PLEC mutations and not restricted to skeletal muscle-specific isoforms [68].