Chapter

CLN7

M. Elleder, M. Kousi, A.-E. Lehesjoki, S.E. Mole, E. Siintola and M. Topçu

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/9780199590018.003.0011

Series: Contemporary Neurology Series

CLN7

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Mutations in MFSD8 ( CLN7 ) underlie one of the many types of variant late infantile NCL, and patients are of diverse ethnic origins. The function of MFSD8 can be predicted as a transporter, from its similarity with other proteins, but what it transports is not yet known. This chapter covers the molecular genetics of the CLN7 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  5507 words.  Illustrated.

Subjects: Neurology

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