Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.

@article{Flanigan2000CongenitalMD,
  title={Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.},
  author={Kevin M. Flanigan and L. R. Kerr and Mark B. Bromberg and Claude L{\'e}onard and J. S. Tsuruda and Pengfei Zhang and Ignacio Gonzalez-Gomez and Robert M. Cohn and Kevin P Campbell and M. Leppert},
  journal={Annals of neurology},
  year={2000},
  volume={47 2},
  pages={
          152-61
        }
}
Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early… CONTINUE READING
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