ArticleJournal of medical genetics1992
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 142 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
- Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).Pflugers Archiv : European journal of physiology · 1996Trial
- Modeling of Charcot-Marie-Tooth disease in zebrafish.Frontiers in molecular neuroscience · 2025Review
- Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.The Journal of biological chemistry · 2019Article
- Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.American journal of orthopedics (Belle Mead, N.J.) · 2016Article
- Detection of copy number variation by SNP-allelotyping.Journal of neurogenetics · 2015Article
- The PMP22 gene and its related diseases.Molecular neurobiology · 2013Review
- Inherited neuropathies.Seminars in neurology · 2012Review
- PMP22 expression in dermal nerve myelin from patients with CMT1A.Brain : a journal of neurology · 2009Article
- Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.American journal of human genetics · 2000Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Journal of medical genetics · 1998Article
- Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.American journal of human genetics · 1998Article
- Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.Journal of medical genetics · 1997Article
- A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.Human genetics · 1996Article
- High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.American journal of human genetics · 1996Article
- Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).Human genetics · 1996Article
- A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.American journal of human genetics · 1995Article
- Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.Human genetics · 1994Article
- Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.Journal of medical genetics · 1994Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1). In this study we aimed to estimate the size of the duplication using additional polymorphic DNA markers located in 17p11.2-p12. Two other 17p11.2 markers, pVAW412R3 (D17S125) and pEW401 (D17S61), were found to be duplicated in all HMSN I patients tested. Furthermore, all HMSN I patients showed the same duplication junction fragment with probe pVAW409R3. On the genetic map the duplicated markers span a minimal distance of 10 cM while on the physical map they are present in the same NotI restriction fragment of 1150 kb. The discrepancy between the genetic and physical map distances suggests that the 17p11.2 region is extremely prone to recombinational events. The high recombination rate may be a contributing factor to the genetic instability of this chromosomal region.
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