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Article
Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)
Mutations in the lamin A/C gene have been reported in a variety of disorders including autosomal dominant Emery-Dreifuss muscular dystrophy and autosomal dominant limb girdle muscular dystrophy with cardiac co...
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Article
Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein
To verify our hypothesis of defective protease inhibitor domains that are encoded by abnormal processing of amyloid precursor protein (APP) in brains of patients with neuronal ceroid lipofuscinoses (NCL), immu...
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Article
Congenital myopathy with myasthenic features and congenital cataract in two siblings
Two siblings with congenital myopathy showing myasthenic manifestations together with congenital cataract are reported. Their muscle weakness fluctuated and was alleviated by edrophonium chloride. Their serum ...
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Article
Computed tomography and magnetic resonance imaging in a young patient with wernicke's encephalopathy