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skos:definition |
JABL: A cerebro-oculomuscular syndrome having the characteristics resembling those of the Marinesco-Sjogren syndrome. Infantile hypotonia, the presenting symptom, is followed in preschool age by ataxia, cataract, and mental retardation. Computed tomography shows cerebellar atrophy, muscle biopsy reveals myopathic changes with vascular degeneration and adipose tissue proliferation, and electron microscopy demonstrates myelin bodies and autophagic vacuoles.
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