Familial mixed congenital myopathy with rigid spine phenotype.

@article{Reichmann1997FamilialMC,
  title={Familial mixed congenital myopathy with rigid spine phenotype.},
  author={Heinz Reichmann and Hans Hilmar Goebel and Christiane Schneider and Klaus Viktor Toyka},
  journal={Muscle & nerve},
  year={1997},
  volume={20 4},
  pages={411-7}
}
We describe a father and daughter with a rigid spine syndrome and proximal myopathy. The index patient was a 42-year-old man, who died from respiratory failure after a lifelong, slowly progressive proximal myopathy and a rigid spine phenotype. This was morphologically characterized by cytoplasmic bodies, increased desmin, features of reducing-body myopathy, and sarcoplasmic and intranuclear tubulofilamentous inclusions. These cases are characterized by an early onset and possibly autosomal… CONTINUE READING