alexa Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.
Neurology

Neurology

Journal of Multiple Sclerosis

Author(s): Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, , Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R,

Abstract Share this page

Abstract BACKGROUND: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B. OBJECTIVE: To assess the etiologic role of DNM2 in CMT. METHODS: We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes. RESULTS: We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy. CONCLUSION: Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology. This article was published in Neurology and referenced in Journal of Multiple Sclerosis

Relevant Expert PPTs

Relevant Speaker PPTs

  • Ildiko Molnar
    The role of tissue-specific type 2 5’-deiodinase enzyme activities in Graves’ orbitopathy and systemic sclerosis: a new candidate in thyroid autoimmunity
    PDF Version
  • Pauline Korukundo
    Pauline-Korukundo-Kiira-Motors-Project-Uganda-Development-of-the-KIIRA-EV-SMACK-Supervisory-Control-Firmware
    PPT Version | PDF Version
  • Erinç Uludamar
    Erinç-Uludamar-Çukurova-University-Turkey-Finite-Element-Analysis-of-Electric-Bike-Rims-Coupled-with-Hub-Motor
    PPT Version | PDF Version
  • Sergey Suchkov
    Translational tools as applicable to autoimmune disorders: antibody-proteases as a generation of highly informative and unique biomarkers to monitor subclinical and clinical stages of demyelination in multiple sclerosis (MS)
    PPT Version | PDF Version
  • Miriam Furst-Yust
    Miriam-Furst-Tel-Aviv-University-Israel-The-correlation-between-binaural-perception-and-brain-stem-lesions
    PPT Version | PDF Version
  • Ahmed G Hegazi
    Cytokines pattern of multiple sclerosis patients treated with Apitherapy
    PPT Version | PDF Version
  • Xuejun H Parsons
    Direct conversion of pluripotent human embryonic stem cells into functional human neuronal or cardiomyocyte cell therapy derivatives for regenerative medicine
    PDF Version

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords