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• W2098897817 abstract "Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle enzyme levels and age and CT numbers of muscle and age, are presented. Skeletal muscle histopathology is reviewed. Febrile illness-induced transient exacerbation of muscle weakness is reported. Characteristic brain malformations, e.g. micropolygyria, other dysgenesis, are reviewed. Their severity correlated with maximal mental and motor function. The etiology and significance of low density areas (LDA) in white matter on CT, possibly reflecting delayed or abnormal myelination, and ventricular dilatation are discussed. Spontaneous LDA improvement makes hydrocephaly unlikely. Ophthalmological differential diagnosis from Santavouri disease and Walker-Warburg syndrome, characterized by visual disturbance/glaucoma and microphthalmia/anterior chamber defects, respectively, is discussed. A single defective gene, manifesting as a metabolic error, may produce CNS and ocular defects as well as muscle degeneration in FCMD." @default.
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• W2098897817 date "1991-04-01" @default.
• W2098897817 modified "2023-09-23" @default.
• W2098897817 title "Fukuyama Type Congenital Progressive Muscular Dystrophy" @default.
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• W2098897817 doi "https://doi.org/10.1111/j.1442-200x.1991.tb01552.x" @default.
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