Article
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.
Molecular genetics and metabolism - 1 Apr 1999
Wisniewski K E, Kaczmarski A, Kida E, Connell F, Kaczmarski W, Michalewski M P, Moroziewicz D N, Zhong N
Abstract excerpt
This study describes the phenotype/genotype analyses of 56 probands with a juvenile onset, some of which had atypical features of neuronal ceroid lipofuscinosis, collected at the New York State Institute for Basic Research (IBR). In this group, we found probands with abundant curvilinear profiles in lysosomal storage material, deficiency of pepstatin-insensitive peptidase, and mutations in the CLN2 gene, as well...
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