Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.

@article{Pegoraro1996CongenitalMD,
  title={Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.},
  author={Elena Pegoraro and Pedro Mancias and Steven H Swerdlow and Radmila B. Raikow and Carlos Su{\'a}rez Garc{\'i}a and Hendrik Marks and Trevor Crawford and Virginia H Carver and B Di Cianno and Eric P. Hoffman},
  journal={Annals of neurology},
  year={1996},
  volume={40 5},
  pages={782-91}
}
Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10 merosin-deficient patients were homogeneous, with severe floppiness at birth, delay in achievement of motor milestones, and magnetic resonance imaging findings of white matter… CONTINUE READING

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