A TPM3 mutation causing cap myopathy.

  title={A TPM3 mutation causing cap myopathy.},
  author={Andr{\'e} Maues de Paula and J{\'e}r{\^o}me Franques and Carla F{\'e}rnandez and Nicole Monnier and Joel Lunardi and J. Pellissier and Dominique F. Figarella-Branger and J. Pouget},
  journal={Neuromuscular disorders : NMD},
  volume={19 10},
Cap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy… CONTINUE READING
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