UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Houlden H, King RHM, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L
  • Publication date:
    10/2004
  • Pagination:
    586, 590
  • Journal:
    Annals of Neurology
  • Volume:
    56
  • Issue:
    4
  • Print ISSN:
    0364-5134
  • Keywords:
    Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Animals, Asparagine, Biopsy, Carrier Proteins, Charcot-Marie-Tooth Disease, DNA Mutational Analysis, Family Health, Functional Laterality, genetics, Hereditary Sensory and Autonomic Neuropathies, Humans, Immunohistochemistry, Male, metabolism, methods, Middle Aged, Mutation, Neural Conduction, pathology, physiology, physiopathology, Proteins, rab GTP-Binding Proteins, radiation effects, Staining and Labeling, Sural Nerve, Threonine
Abstract
There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B). We report a family with autosomal dominant ulcero-mutilating neuropathy, developing in the teens and characterized by ulcers, amputations, sensory involvement in the feet but no motor features. Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161. The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers Show More
Author
Clinical Neuroscience
Author
Department of Neuromuscular Diseases
Author
Clinical and Movement Neurosciences
Author
Department of Neuromuscular Diseases
Author
Clinical and Movement Neurosciences
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by