Chapter

CLN6

J. Alroy, T. Braulke, I.A. Cismondi, J.D. Cooper, D. Creegan, M. Elleder, C. Kitzmüller, R. Kohan, A. Kohlschütter, S.E Mole, I. Noher de Halac, R. Pfannl, A. Quitsch and A. Schulz

in The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Second edition

Published on behalf of Oxford University Press

Published in print March 2011 | ISBN: 9780199590018
Published online November 2012 | e-ISBN: 9780191753459 | DOI: http://dx.doi.org/10.1093/med/9780199590018.003.0010

Series: Contemporary Neurology Series

CLN6

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Mutations in CLN6 cause one of the earliest variant NCLs recognized (Lake and Cavanagh, 1978), originally termed early juvenile NCL, and are now known to underlie one of the many types of late infantile variant NCLs. Patients are of diverse ethnic origin. The function of CLN6 is unknown. This chapter covers the molecular genetics of the CLN6 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  8060 words.  Illustrated.

Subjects: Neurology

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