Erratum to: J Hum Genet 51:305–313 DOI 10.1007/s10038-006-0362-0

In this article, one of the novel mutations, c.208_209+8del10, was incorrectly given as c.69_70+8del10. It corresponds to patient 64 in Table 4.

Additionally, the genotype for patient 34 (Table 4) is p.T191M/p.T191M, and not p.[T191M;D444N]/[T191M;D444N]. Accordingly, in the Discussion, the two sentences: “It should be noted that two patients in our series bore p.D444N: patient #54 (described above) and patient #34. The latter was homozygous for the double-mutant allele p.[T191M;D444N]. Both patients originate from the same region of Spain.” should not be taken into consideration.

Finally, the correct name of one of the authors is Dr. Marina Szlago and not Dr. Mariana Szlago.

The authors regret these mistakes.