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

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. Copyright 2002 Wiley Periodicals, Inc. Muscle Nerve 25: 000-000, 2002