Abstract
LMOD3: the "missing link" in nemaline myopathy?
Highlights
Nemaline myopathy (NM) is one of the most common forms of congenital-onset myopathy and provides an excellent example of how mutations in many skeletal muscle genes can lead to a common clinical and pathological phenotype
We recently identified LMOD3, which encodes leiomodin-3 (LMOD3), as a new cause of autosomal recessive nemaline myopathy [1]
With international collaborators we identified 21 patients with LMOD3-NM and showed that it typically presents with severe muscle weakness associated with marked disorganization of the sarcomere, that is usually lethal at birth or in the first few months of life
Summary
Nemaline myopathy (NM) is one of the most common forms of congenital-onset myopathy and provides an excellent example of how mutations in many skeletal muscle genes can lead to a common clinical and pathological phenotype. The first six genes identified as causes of NM encode components of the sarcomeric thin filament in skeletal muscle (NEB, ACTA1, TPM3, TPM2, CFL2 and TNNT1).
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