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Article

HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.

Neurobiology of aging - 1 Mar 2015

Alavi Afagh, Shamshiri Hosein, Nafissi Shahriar, Khani Marzieh, Klotzle Brandy, Fan Jian-Bing, Steemers Frank, Elahi Elahe

Abstract excerpt

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disease so far identified only in individuals of Far East ancestry. Here, genome-wide linkage analysis and exome sequencing in an Iranian pedigree with 16 members affected with a neuromuscular disease led to identification of a mutation in TFG that causes p.Pro285Leu as cause of disease. The very same mutation was reported as...

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PMID: 25725944
DOI: 10.1016/j.neurobiolaging.2014.11.021

Genes

TFG

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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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