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Article

A novel NGFB point mutation: a phenotype study of heterozygous patients.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2009

Minde J, Andersson T, Fulford M, Aguirre M, Nennesmo I, Remahl I Nilsson, Svensson O, Holmberg M, Toolanen G, Solders G

Abstract excerpt

OBJECTIVE: A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor beta (NGFB) gene was recently described. The homozygous genotype gives disabling symptoms. The purpose of the present study was to evaluate the symptoms in heterozygous patients. METHODS: 26 patients heterozygous for the NGFB mutation (12 men, mean age 50...

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Source

Identifiers

PMID: 18420729
DOI: 10.1136/jnnp.2007.136051

Provenance

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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