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Article

A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease.

Gene - 25 Jan 2014

Wang Xing, Han Chunmao, Liu Wenqiang, Wang Ping, Zhang Xianqin

Abstract excerpt

Charcot–Marie–Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, w...

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PMID: 24498653

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24498653-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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