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Article

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

European journal of neurology - 1 Dec 2024

Cabello-Murgui Javier, Jiménez-Jiménez Jesús, Vílchez Juan J, Azorín Inmaculada, Martí-Martínez Pilar, Millet Elvira, Lupo Vincenzo, Sevilla Teresa, Sivera Rafael

Abstract excerpt

BACKGROUND AND PURPOSE: ITPR3 encodes type 3 inositol-tri-phosphate receptor (IP3R3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca2+ release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT). METHODS: We collected the clinical data of a...

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Identifiers

PMID: 39287469
DOI: 10.1111/ene.16485
PMCID: PMC11554859

Genes

ITPR3

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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