centronuclear myopathy

Centronuclear myopathy; where cell nuclei are abnormally located in skeletal muscle cells.

Centronuclear myopathy, also called Myotubular myopathy, a rare congenital muscle disorder.

Mutations in Myf-6 can provoke disorders including centronuclear myopathy and Becker muscular dystrophy.

To date, the only X-linked mutation site causing centronuclear myopathy is the MTM1 gene.

(The terms "centronuclear myopathy" and "myotubular myopathy" are sometimes equated.)

He is noted for his volunteer work with the Joshua Frase Foundation, a non-profit group that supports research for centronuclear myopathy.

Centronuclear myopathy (including myotubular myopathy)

Myotubular myopathy (Centronuclear myopathy)

This condition is now known as dynamin 2 centronuclear myopathy (abbreviated DNM2-CNM).

Recently, researchers discovered mutations at the gene dynamin 2 (DNM2 on chromosome 19, at site 19p13.2), responsible for the autosomal dominant form of centronuclear myopathy.

Gowers' sign is classically seen in Duchenne muscular dystrophy, but also presents itself in centronuclear myopathy, myotonic dystrophy and various other conditions associated with proximal muscle weakness.

Although all forms of centronuclear myopathy are considered rare, the most commonly known form of CNM is Myotubular Myopathy (MTM).

In general, a clinical myopathy and a muscle biopsy showing a centronuclear (nucleus in the center of the muscle cell) appearance would indicate a centronuclear myopathy (CNM).

Pathological accumulation of lipofuscin is implicated in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, certain lysosomal diseases, acromegaly, denervation atrophy, lipid myopathy, chronic obstructive pulmonary disease, and centronuclear myopathy.

Some research suggests that this theory may be acceptable for infant-onset myotubular myopathy (mutations at the MTM1 gene on the X chromosome), but may not be acceptable for the autosomal forms of centronuclear myopathy.

Cases with a centronuclear (nucleus in the center) appearance on muscle biopsy but a normal genetic test for MTM1 would be referred to as centronuclear myopathy until such time as a specific genetic site is identified to give a more detailed sub-classification.

This led to him co-creating the Joshua Frase Foundation in the fall of 1996, a foundation devoted to raising funds for research into Centronuclear myopathy and related congenital myopathies, with friend and former Syracuse/New York Jets teammate Paul Frase.

For example, a muscle biopsy showing the nucleus pathologically located in the center of the muscle cell would indicate "centronuclear myopathy", but research has shown that a variety of myopathies can cause these centronuclear biopsy appearance, and hence the specific genetic testing becomes increasingly important.

It is theoretically possible that some cases of CNM may be caused by an abnormality on the X chromosome, but located at a different site than the gene MTM1, but currently MTM1 is the only X-linked genetic mutation site identified for myotubular or centronuclear myopathy.