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Article

Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.

Neuromuscular disorders : NMD - 1 Aug 2008

Wieczorek Stefan, Bergström Jonas, Sääf Maria, Kötting Judith, Iwarsson Erik

Abstract excerpt

Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a severe autosomal recessive disorder characterized by childhood onset of sensory and autonomic dysfunction leading to hyperthermia, recurrent infections and physical impairment due to complications of osteoarthritis. Cognitive impairment and aggressive behaviour is common. HSAN4 is caused by mutations in the NTRK1 gene coding for the tyrosine kinase...

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Source

Identifiers

PMID: 18657423
DOI: 10.1016/j.nmd.2008.06.370

Genes

NTRK1

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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