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Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.
  1. H H Goebel,
  2. W Zeman,
  3. H Pilz

    Abstract

    Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.

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