Phenotypic heterogeneity evident in primary muscle disorders

Takeaway

  • There is a notable clinical overlap and associated phenotypic heterogeneity in people with congenital muscular dystrophies (CMD) and congenital myopathies (CM).

Why this matters

    Whole exome sequencing (WES) coupled with pathological analysis and segregation studies, may serve as a diagnostic approach to elucidate the underlying mutation in people with CMD or CM, and in turn facilitate more appropriate patient care.