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Article

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Journal of the neurological sciences - 15 Aug 2014

Ciotti Paola, Luigetti Marco, Geroldi Alessandro, Capponi Simona, Pezzini Ilaria, Gulli Rossella, Pazzaglia Costanza, Padua Luca, Massa Roberto, Mandich Paola, Bellone Emilia

Abstract excerpt

Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE...

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Source

Identifiers

PMID: 24880540
DOI: 10.1016/j.jns.2014.05.029

Genes

LITAF

Variants

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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