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

OMICS International 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

Agri, Food, Aqua and Veterinary Science Journals

Dr. Krish

agrifoodaquavet@omicsonline.com

1-702-714-7001 Extn: 9040

Clinical and Biochemistry Journals

Datta A

clinical_biochem@omicsonline.com

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

business@omicsonline.com

1-702-714-7001Extn: 9042

Chemical Engineering and Chemistry Journals

Gabriel Shaw

chemicaleng_chemistry@omicsonline.com

1-702-714-7001 Extn: 9040

Earth & Environmental Sciences

Katie Wilson

environmentalsci@omicsonline.com

1-702-714-7001Extn: 9042

Engineering Journals

James Franklin

engineering@omicsonline.com

1-702-714-7001Extn: 9042

General Science and Health care Journals

Andrea Jason

generalsci_healthcare@omicsonline.com

1-702-714-7001Extn: 9043

Genetics and Molecular Biology Journals

Anna Melissa

genetics_molbio@omicsonline.com

1-702-714-7001 Extn: 9006

Immunology & Microbiology Journals

David Gorantl

immuno_microbio@omicsonline.com

1-702-714-7001Extn: 9014

Informatics Journals

Stephanie Skinner

omics@omicsonline.com

1-702-714-7001Extn: 9039

Material Sciences Journals

Rachle Green

materialsci@omicsonline.com

1-702-714-7001Extn: 9039

Mathematics and Physics Journals

Jim Willison

mathematics_physics@omicsonline.com

1-702-714-7001 Extn: 9042

Medical Journals

Nimmi Anna

medical@omicsonline.com

1-702-714-7001 Extn: 9038

Neuroscience & Psychology Journals

Nathan T

neuro_psychology@omicsonline.com

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

John Behannon

pharma@omicsonline.com

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

social_politicalsci@omicsonline.com

1-702-714-7001 Extn: 9042

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