nemaline myopathies การใช้

• This mutation results in about 50 % of affected nemaline myopathy patients.
• There are several other identified kinds of mutations that lead to Nemaline Myopathies.
• Bulbar ( throat ) muscle weakness is a main feature of nemaline myopathy.
• Mutations in nebulin cause some cases of the autosomal recessive disorder nemaline myopathy.
• Nemaline Myopathy is caused by mutations in one of at least 10 different genes.
• These nebulin-knockout mice are being investigated as animal models of nemaline myopathy.
• For example, the presence of small intranuclear rods has been reported in some cases of nemaline myopathy.
• Muscle fibers from a person with nemaline myopathy contains thread-like rods, sometimes called nemaline bodies.
• Forty years later, Reye's " rod myopathy " patient was confirmed to have nemaline myopathy.
• Recent case reports identified three more mutations in TNNT1 gene to cause nemaline myopathies outside the Amish population.
• Nemaline myopathy is a clinically and genetically heterogeneous disorder and both autosomal dominant and autosomal recessive forms can occur.
• Nemaline myopathy, or NM, is a rare genetic neuromuscular disorder that can be fatal, especially in infants.
• "Nemaline myopathy " was first named in a published paper in 1963 by North American researchers Cohen and Shy.
• A nonsense mutation S108X in exon 9 was identified in a Hispanic male patient with severe recessive nemaline myopathy phenotype.
• A third kind of nemaline myopathy in the Skeletal Muscle ?-Actin Gene ACTA1 is due to a recessive null mutation.
• A Dutch patient with compound heterozygous TNNT1 gene mutations that cause exon 8 and exon 14 deletions also presents nemaline myopathy phenotypes.
• The two most common gene mutations causing nemaline myopathy are found on " NEB " or " ACTA1 ".
• The NM community has a number of resources to welcome affected individuals and their families, such as the Nemaline Myopathy Welcome Letter.
• Physical expression of nemaline myopathy varies greatly, but weakness is usually concentrated in the proximal muscles, particularly respiratory, bulbar and trunk muscles.
• Mutations in " TPM2 " have also been associated with nemaline myopathy, a rare disorder characterized by muscle weakness and nemaline bodies,