Article
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
Molecular genetics and metabolism - 1 Nov 2006
Bessa C, Teixeira C A F, Mangas M, Dias A, Sá Miranda M C, Guimarães A, Ferreira J C, Canas N, Cabral P, Ribeiro M G
Abstract excerpt
The neuronal ceroid-lipofuscinoses are the most common neurodegenerative disorders in childhood characterized by progressive blindness, epilepsy, brain atrophy, and premature death. Based on the age at onset, disease progression and ultrastructural features three classical (infantile, late-infantile, and juvenile) and three variant late-infantile forms are generally distinguished (Finnish variant, Costa Rican...
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