Familial centronuclear myopathy.

Familial centronuclear myopathy associated with 'cardiomyopathy'.

Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.

Adult- Onset Centronuclear Myopathy.

Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form. We report a 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life...

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

Myotonia in centronuclear myopathy.

Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.

Dynamin 2 the rescue for centronuclear myopathy.

Centronuclear myopathy is a lethal muscle disease. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. MTM1 is a lipid phosphatase, and mutations that disrupt this activity cause severe muscle wasting. In this issue of...