Literature DB >> 15505184

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

C Verny1, N Ravisé, A-L Leutenegger, F Pouplard, O Dubourg, S Tardieu, F Dubas, A Brice, E Genin, E LeGuern.   

Abstract

The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present.

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Year:  2004        PMID： 15505184     DOI： 10.1212/01.wnl.0000142082.65144.ee

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  13 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.

Authors:  Patrick Scott; Zandre Bruwer; Khalsa Al-Kharusi; Douja Meftah; Fathiya Al-Murshedi
Journal:  Oman Med J       Date:  2016-05

3.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

Review 4.  A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Authors:  Carly E Siskind; Seema Panchal; Corrine O Smith; Shawna M E Feely; Joline C Dalton; Alice B Schindler; Karen M Krajewski
Journal:  J Genet Couns       Date:  2013-04-21       Impact factor: 2.537

Review 5.  Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Authors:  O Dubourg; H Azzedine; C Verny; G Durosier; N Birouk; R Gouider; M Salih; A Bouhouche; A Thiam; D Grid; M Mayer; M Ruberg; M Tazir; A Brice; E LeGuern
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

6.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Journal:  N Engl J Med       Date:  2010-03-10       Impact factor: 91.245

Review 7.  Diagnosis of Charcot-Marie-Tooth disease.

Authors:  Isabel Banchs; Carlos Casasnovas; Antonia Albertí; Laura De Jorge; Mónica Povedano; Jordi Montero; Juan Antonio Martínez-Matos; Victor Volpini
Journal:  J Biomed Biotechnol       Date:  2009-10-08

8.  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors:  Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

Review 9.  Inherited peripheral neuropathies.

Authors:  Mario A Saporta; Michael E Shy
Journal:  Neurol Clin       Date:  2013-03-05       Impact factor: 3.806

10.  A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Authors:  Davide Pareyson; Tanya Stojkovic; Mary M Reilly; Sarah Leonard-Louis; Matilde Laurà; Julian Blake; Yesim Parman; Esra Battaloglu; Meriem Tazir; Mounia Bellatache; Nathalie Bonello-Palot; Nicolas Lévy; Sabrina Sacconi; Raquel Guimarães-Costa; Sharham Attarian; Philippe Latour; Guilhem Solé; André Megarbane; Rita Horvath; Giulia Ricci; Byung-Ok Choi; Angelo Schenone; Chiara Gemelli; Alessandro Geroldi; Mario Sabatelli; Marco Luigetti; Lucio Santoro; Fiore Manganelli; Aldo Quattrone; Paola Valentino; Tatsufumi Murakami; Steven S Scherer; Lois Dankwa; Michael E Shy; Chelsea J Bacon; David N Herrmann; Alberto Zambon; Irene Tramacere; Chiara Pisciotta; Stefania Magri; Stefano C Previtali; Alessandra Bolino
Journal:  Ann Neurol       Date:  2019-05-27       Impact factor: 11.274
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