Abstract

Myotubular myopathy (MM), a kind of congenital myopathy, is inherited as an autosomal recessive, autosomal dominant or X-linked trait. Central placement of celI nuclei, forming rows at the transverse cross-section of muscle fiber is the essential morphological characteristic of myotubular myopathy. The authors present a case of MM in a premature infant (33 Hbd). After birth, generalized corpus amyotonia, tarsal joint contractures and the lack of deep tendon reflexes were observed. On the 12th day of life the face muscles also became symptomatic. MM was diagnosed on the basis of a quadriceps muscle bioptate.

Keywords: myotubular myopathy, floppy infant, premature newborn