DNA deletion associated with hereditary neuropathy with liability to pressure palsies

TL;DR: It is demonstrated that HNPP can present with rapidly progressive peripheral nerve dysfunction and electrophysiological evidence of focal axonal loss, as well as fulminant HnPP beginning on the first day of military physical training.

TL;DR: The presence of mild symptoms and the marked phenotypic variability of the disease result in underdiagnosis of HNPP.

TL;DR: It is recommended that DNA analysis for the 17p11.2 deletion be considered in patients with unexplained demyelinating neuropathy regardless of family history, because of the marked phenotypic variability of the disease.

TL;DR: The findings appear to support the existence of a phenotype/genotype correlation in HnPP patients of Korean ancestry with the deletion, and suggest that HNPP patients with earlier symptom onset face an increased chance of having recurrent attacks.

TL;DR: In this article, a technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, where DNA fragments are purified from agarose gels directly by ethanol precipitation and are then denatured and labeled with the large fragment of DNA polymerase I, using random oligonucleotides as primers.

TL;DR: The use of fluorescence in situ hybridization for chromosome classification and detection of chromosome aberrations is described and chromosomes in human-hamster hybrid cell lines were intensely and uniformly stained in metaphase spreads and interphase nuclei when human genomic DNA was used as a probe.

TL;DR: It is demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus.

TL;DR: The TBR gene is established as the NF1 gene and a description of a major segment of the gene is provided, indicating base pair changes in the gene.