The pathologies typically manifest initially as limb-girdle muscular dystrophy type R2 dysferlin-related (LGMDR2; previously known as LGMD2B [5]) or Miyoshi myopathy, with initial weakness typically in the proximal limb girdle or distal muscles, respectively [6], although gradations across phenotypes are now more widely recognized [7]. Here, DYSF is linked to Miyoshi myopathy.