[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

@article{Fardeau1978ANF,
  title={[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].},
  author={Michel Fardeau and J Godet-Guillain and Fernando M. S. Tom{\'e} and Huguette Collin and S Gaudeau and C Boffety and Pierre Vernant},
  journal={Revue neurologique},
  year={1978},
  volume={134 6-7},
  pages={411-25}
}
This report concerns a family in which several members presented an involvement of skeletal and velo-pharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances and lens opacities. The mode of transmission is autosomal dominant. The E.M.G. showed neither spontaneous activity nor myotonic discharges. In two patients, the muscle biopsies showed identical changes. By light microscopy it was seen that in numerous type I fibres, the intermyofibrillar network was "rubbed… CONTINUE READING