Abstract: 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.

Abstract: 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.

Abstract: The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to diagnose distal hereditary motor neuropathy type II by detecting polymorphisms in HSP22 gene.

Abstract: The invention relates to a process for the in-vitro diagnosis of chromosomal anomalies liable to be correlated with CMT1a disease. The invention also relates to probes intended in this in-vitro diagnosis process and to kits containing said probes. The probes of the invention can contain a sequence constituted of from about 15 successive nucleotides of a Not1 fragment, with said Not1 fragment having 1.2.times.10.sup.6 base pairs and being obtained after digesting human DNA of patients with Not1, separating the fragments resulting from digestion by pulsed field gel electrophoresis and hybridizing the resulting fragments with any of the probes VAW409, EW401 or VAW412 or their derivatives, to about the total number of the successive nucleotides of the Not1 fragment. The probes enable the detection of the duplication of a part of chromosome 17p.