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Article

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.

European journal of human genetics : EJHG - 1 Feb 2013

Nicolaou Paschalis, Cianchetti Carlo, Minaidou Anna, Marrosu Giovanni, Zamba-Papanicolaou Eleni, Middleton Lefkos, Christodoulou Kyproula

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysiological and pathological findings. Our study focused on the identification of a novel disease mutation in a large...

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PMID: 22781092
DOI: 10.1038/ejhg.2012.146
PMCID: PMC3548253

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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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