Article
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.
European journal of pediatrics - 1 Feb 1998
Angius A, Dessi V, Lovicu M, De Virgiliis S, Pirastu M, Cao A
Abstract excerpt
UNLABELLED: We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of neurological impairment but absent hepatic manifestations. Molecular analysis showed compound heterozygosity for two frameshift mutations, 2299insC...
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