Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

@article{Bevilacqua2011RecessiveRM,
  title={Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.},
  author={Jorge A Bevilacqua and Nicole Monnier and Marc Bitoun and Bruno Eymard and A. Lopez Ferreiro and Soledad Monges and Fabiana J Lubieniecki and Ana L{\'i}a Taratuto and Annie Laqu{\'e}rriere and Kristl G. Claeys and Isabelle Marty and Michel Fardeau and Pascale Guicheney and J{\"o}el Lunardi and Norma Beatriz Romero},
  journal={Neuropathology and applied neurobiology},
  year={2011},
  volume={37 3},
  pages={271-84}
}
AIMS To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1). METHODS Seven unrelated patients shared a predominant axial and proximal weakness of varying severity, with onset during the neonatal period, associated with bilateral ptosis and ophthalmoparesis, and unusual muscle biopsy features at light and… CONTINUE READING