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Article

Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.

Clinical neuropathology - 1 Jan 2000

Cheng Si, Lv He, Zhang Wei, Wang Zhaoxia, Shi Xin, Liang Wei, Yuan Yun

Abstract excerpt

Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and...

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Source

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Identifiers

PMID: 28332470
DOI: 10.5414/NP301011
PMCID: PMC5541264

Genes

FBLN5

Variants

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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