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

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Abstract
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. © 2002 Wiley Periodicals, Inc. Muscle Nerve 25: 000–000, 2002