Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.
Open Access
- 1 October 1975
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 38 (10) , 985-993
- https://doi.org/10.1136/jnnp.38.10.985
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.Keywords
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