The term
congenital myopathy is applied to
muscle disorders presenting with generalized
muscle weakness and
hypotonia from early infancy with delayed developmental milestones. The
congenital myopathies have been classified into various categories based on morphological findings on
muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This
review will focus on
myotubular myopathy,
centronuclear myopathy,
central core disease, and
congenital neuromuscular disease with
uniform Type 1 fiber,
myopathies that are subjects of our ongoing examinations.