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Article

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Annals of neurology - 1 Oct 2004

Houlden Henry, King Rosalind H M, Muddle John R, Warner Thomas T, Reilly Mary M, Orrell Richard W, Ginsberg Lionel

Abstract excerpt

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...

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Source

Identifiers

PMID: 15455439
DOI: 10.1002/ana.20281

Genes

SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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