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Nebulin dysfunction may contribute to weakness in nemaline myopathy; leaves open targeted therapies pending prospective validation.
Nebulin is a giant protein and a constituent of the skeletal muscle sarcomere. The name of this protein refers to its unknown (i.e., nebulous) function. However, recent rapid advances reveal that nebulin plays important roles in the regulation of muscle contraction. When these functions of nebulin are compromised, muscle weakness ensues, as is the case in patients with nemaline myopathy.
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Ottenheijm et al. (2010) studied this question.
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