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Muscle Nerve. 2002 May;25(5):747-52.

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.

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  • 1Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.


The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the case of very large and complex genes such as the large 1298 kb nebulin gene.

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