Myotubular/centronuclear myopathy and central core disease.

Congenital myopathies in Israeli families.

The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consangui...

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

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 ...

Neuropathy in myotubular or centronuclear myopathy.

A detailed electrophysiological study has been made of the extensor digitorum brevis, thenar, hypothenar and soleus muscles in one patient with myotubular or centronuclear myopathy. The main finding was a noticeable reduction in the population of active motor units in all the investigated muscles. The remainer units showed normal sizes. The experimental observations have been interpreted in ter...