Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies
as a group encompass great clinical and genetic heterogeneity so that achieving an
accurate genetic diagnosis has become increasingly challenging, even in the age of next
generation sequencing. In this document we review the diagnostic features, differential
diagnostic considerations and available diagnostic tools for the various CMD subtypes and …