DIAGNOSTIC TESTS FOR THE DETECTION OF INHERITED PERIPHERAL NEUROPATHIES

摘要

The disclosure relates to the field of human genetics, particularly the field of peripheral neuropathy, particularly inherited peripheral neuropathy. Specifically, the disclosure relates to methods and materials to detect hereditary peripheral neuropathy, more particularly autosomal recessive Charcot-Marie-Tooth disease.

主权项

1. An isolated polynucleotide coding for a mutant HINT1 polypeptide, said polynucleotide containing in comparison to the wild-type HINT1 encoding sequence set forth in SEQ ID NO: 1 one or more mutations selected from the mutations set forth in Table 1.