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Article

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.

Journal of the neurological sciences - 15 Oct 2016

Khani Marzieh, Shamshiri Hosein, Alavi Afagh, Nafissi Shahriar, Elahi Elahe

Abstract excerpt

We aimed to identify the genetic cause of neurological disease in an Iranian pedigree whose manifestations suggested hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). Identification of a p.Gly269Val mutation in TFG, the known HMSN-P causative gene, provided supportive evidence. Subjective, biochemical, electrodiagnostic, and imaging data were compared with previously reported HMSN-P...

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Source

Identifiers

PMID: 27653917
DOI: 10.1016/j.jns.2016.08.035

Genes

TFG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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