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Publication Detail
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Houlden H, King RHM, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L
  • Publication date:
  • Pagination:
    586, 590
  • Journal:
    Annals of Neurology
  • Volume:
  • Issue:
  • Print ISSN:
  • 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
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
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Clinical Neuroscience
Department of Neuromuscular Diseases
Clinical and Movement Neurosciences
Department of Neuromuscular Diseases
Clinical and Movement Neurosciences
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