The Molecular Basis of GROD-Storing Neuronal Ceroid Lipofuscinoses in Scotland

Two distinct clinical subtypes of neuronal ceroid lipofuscinosis caused by mutations in thePPTgene, INCL and vJNCL/GROD, occur at a high frequency in the central region of Scotland. In this paper we summarize the clinical details and the molecular basis underlying the disease in the Scottish patient...

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Bibliographic Details
Published in:Molecular genetics and metabolism 1999-04, Vol.66 (4), p.245-247
Main Authors: Stephenson, J.B.P., Greene, N.D.E., Leung, K.Y., Munroe, P.B., Mole, S.E., Gardiner, R.M., Taschner, P.E.M., O'Regan, M., Naismith, K., Crow, Y.J., Mitchison, H.M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Codon, Terminator
DNA Mutational Analysis
Genotype
Humans
Infant
Neuronal Ceroid-Lipofuscinoses - etiology
Neuronal Ceroid-Lipofuscinoses - genetics
Phenotype
Scotland
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Summary:Two distinct clinical subtypes of neuronal ceroid lipofuscinosis caused by mutations in thePPTgene, INCL and vJNCL/GROD, occur at a high frequency in the central region of Scotland. In this paper we summarize the clinical details and the molecular basis underlying the disease in the Scottish patients. Comparison of the combination of mutations in the different clinical types reveals a clear genotype–phenotype correlation.
ISSN:1096-7192
1096-7206
DOI:10.1006/mgme.1999.2831