Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

@article{Piteau2014CongenitalMW,
  title={Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.},
  author={Shalea J Piteau and John P. Rossiter and Ronald Garth Smith and Jennifer J MacKenzie},
  journal={Pediatric neurology},
  year={2014},
  volume={51 2},
  pages={192-7}
}
BACKGROUND Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies. METHODS We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. RESULTS Our patient presented at birth… CONTINUE READING
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