Concepedia

Publication | Closed Access

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

DOI

85

Citations

19

References

1999

Year

Leena Lauronen, Patricia B. Munroe, Irma Järvelä, Taina Autti, Hannah M. Mitchison, Angela O'Rawe, R M Gardiner, Sara Mole, Jooseppi Puranen, A.‐M. Häkkinen,
Neurology

Abstract

JNCL can manifest as at least three different phenotypes: classic, delayed classic, and protracted JNCL with predominantly ocular symptoms. Finnish compound heterozygotes have the delayed classic or the protracted form of JNCL.

References

YearCitations

Page 1