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Article

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.

Neurology - 28 Nov 2000

Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung H P, Timmerman V

Abstract excerpt

OBJECTIVE: To perform genotype-phenotype correlation and genetic linkage analysis in a family with axonal Charcot-Marie-Tooth (CMT) syndrome and ulcero-mutilating features. BACKGROUND: CMT2B is a rare disorder belonging to the group of axonal CMT syndromes that is clinically characterized by marked distal muscle weakness and wasting as well as a high frequency of foot ulcers, infections, and amputations. So far...

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Source

Identifiers

PMID: 11094113
DOI: 10.1212/wnl.55.10.1552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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