title: Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.
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.
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002524:Cerebellar Ataxia / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008064:Lipidoses / Q000175:diagnosis* / Q000473:pathology; D008247:Lysosomes / Q000473:pathology; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009210:Myofibrils / Q000648:ultrastructure; D009896:Optic Atrophy / Q000175:diagnosis; D010860:Pigments, Biological / Q000032:analysis; D012162:Retinal Degeneration; D013577:Syndrome
chemical_list: D010860:Pigments, Biological