ArticleHuman genetics1996
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 56 citations in OpenAlex.
- Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.Yonsei medical journal · 2005Trial
- PathogenicHuman mutation · 2026Article
- Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.Molecular cytogenetics · 2019Article
- Unveiling of miRNA Expression Patterns in Purkinje Cells During Development.Cerebellum (London, England) · 2017Article
- Article
- Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.American journal of human genetics · 2010Article
- Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6.Case reports in medicine · 2010Article
- Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.American journal of human genetics · 2007Article
- Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.Human genetics · 2006Article
- A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.Journal of human genetics · 2006Article
- Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.Human genetics · 2004Article
- Genome architecture catalyzes nonrecurrent chromosomal rearrangements.American journal of human genetics · 2003Article
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Genome research · 2001Article
- Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.Journal of medical genetics · 2000Article
- DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.American journal of human genetics · 1999Article
- Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Molecular medicine (Cambridge, Mass.) · 1998Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescense in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype asociated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplications, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.