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Article

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2005

Klein C J, Wu Y, Kruckeberg K E, Hebbring S J, Anderson S A, Cunningham J M, Dyck P J B, Klein D M, Thibodeau S N, Dyck P J

Abstract excerpt

BACKGROUND: The variable clinical features of hereditary sensory and autonomic neuropathy (HSAN I) suggest heterogeneity. Some cases of idiopathic sensory neuropathy could be caused by missense mutations of SPTLC1 and RAB7 and not be recognised as familial. OBJECTIVE: To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of SPTLC1 and RAB7....

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Source

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Identifiers

PMID: 15965219
DOI: 10.1136/jnnp.2004.050062
PMCID: PMC1739730

Genes

SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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