Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

@article{Steinfeld2002LateIN,
  title={Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.},
  author={Robert Steinfeld and Peter Heim and Henning Freiherr von Gregory and Kerstin Meyer and Kurt Ullrich and Hans Hilmar Goebel and A Kohlsch{\"u}tter},
  journal={American journal of medical genetics},
  year={2002},
  volume={112 4},
  pages={347-54}
}
We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating… CONTINUE READING
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