Myopathy in Marinesco-Sjogren syndrome.

@article{Superneau1987MyopathyIM,
  title={Myopathy in Marinesco-Sjogren syndrome.},
  author={Duane W. Superneau and W. Wertelecki and Hans Zellweger and Frank Bastian},
  journal={European neurology},
  year={1987},
  volume={26 1},
  pages={
          8-16
        }
}
Progressive muscular weakness, hypotonia and atrophy are among the cardinal signs of the Marinesco-Sjogren syndrome but have not been extensively investigated. Our study focused on 6 related patients who are members of an inbred population. Muscle biopsies revealed myopathic alterations with variation of fiber size, rounding, degeneration and regeneration of fibers, internalization of nuclei and endomysial fat and fibrosis. Most patients had elevated serum creatine kinase levels. One patient… CONTINUE READING
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