At least six different forms of nemaline myopathy have been identified.

Today, at least six gene mutations are known to cause nemaline myopathy.

These nebulin-knockout mice are being investigated as animal models of nemaline myopathy.

For example, the presence of small intranuclear rods have been reported in some cases of nemaline myopathy.

Bulbar (throat) muscle weakness is a main feature of nemaline myopathy.

Most affected individuals have a milder form of the disorder known as typical congenital nemaline myopathy.

Mutations in the CFL2 gene are associated with nemaline myopathy.

Nemaline myopathy is skeletal muscle weakness typically in the face, neck, and limb regions.

Nemaline myopathy is a clinically and genetically heterogeneous disorder.

The severity, age of onset, and inheritance pattern varies among these different forms of nemaline myopathy.

Grassroots group that networks families affected by pediatric/adult Nemaline Myopathy for support and information.

Mutations in nebulin cause some cases of the autosomal recessive disorder nemaline myopathy.

Forty years later, Reye's "rod myopathy" patient was confirmed to have nemaline myopathy.

Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association.

"Nemaline myopathy" was first named in a published paper in 1963 by North American researchers Cohen and Shy.

Nemaline myopathy is an autosomal recessive genetic disorder, meaning mutated copies must be inherited from both parents for the disease to onset.

Nemaline myopathy is a muscle disease that is characterised by the presence of electron-dense rod bodies in skeletal muscle fibers.

People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles.

Physical expression of nemaline myopathy varies greatly, but weakness is usually concentrated in the proximal muscles, particularly respiratory, bulbar and trunk muscles.

When certain muscle fibers of individuals with nemaline myopathy are examined under a microscope, they show the presence of fine, thread-like or rod-like structures called "nemaline bodies."

One source includes nemaline myopathy, myotubular myopathy, central core myopathy, congenital fiber type disproportion, and multicore myopathy.

Interestingly, SNP 3, a C598T substitution resulting in a premature stop codon in exon 1, was detected in a single Nemaline myopathy patient.

The vast majority of the mutations that affect actin are point mutations that have a dominant effect, with the exception of six mutations involved in nemaline myopathy.

Changes in actin's folding occur in nemaline myopathy as well as changes in its aggregation and there are also changes in the expression of other associated proteins.

"Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells.