G.P.13.14 A new form of congenital myopathy with severe fibre immaturity

Abstract

We describe two boys of a non-consanguineous pedigree with a distinct myopathy characterized by fibre immaturity. Patient 1 displayed hypotonia and reduced spontaneous movements since birth. With clear disease progression, at one year of age, he had moderate facial weakness, conserved eye movements, weak cry, absent head control, froglike position of the legs, conserved antigravity movements of the forearms, but very poor hand and finger movements. Discrete contractures of elbow, hip and knee joints were present.