Neuropathy in myotubular or centronuclear myopathy.

X-linked myotubular myopathy and chylothorax.

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequent...

Severe neonatal manifestation of centronuclear myopathy: X-linked myotubular myopathy

Myotubular/centronuclear myopathy and central core disease.

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 r...

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated ...

Myotubular myopathy associated with cataract and electrical myotonia.

A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.