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Article

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

BMC neurology - 3 Jun 2014

Engeholm Maik, Sekler Julia, Schöndorf David C, Arora Vineet, Schittenhelm Jens, Biskup Saskia, Schell Caroline, Gasser Thomas

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein ligase with a role in...

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Identifiers

PMID: 24894446
DOI: 10.1186/1471-2377-14-118
PMCID: PMC4060843

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Source receipt: pubmed, retrieved 7 Sept 2026.

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