Journal
ANNALS OF NEUROLOGY
Volume 56, Issue 4, Pages 586-590Publisher
WILEY-BLACKWELL
DOI: 10.1002/ana.20281
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There arc two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathics: 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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