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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...

Topics

Adolescent
Adult
Aged
Axons
Charcot-Marie-Tooth Disease
Child
Exome
Female
Genes, Dominant
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Mutation

Pedigree

Ubiquitin-Protein Ligases

Young Adult

Source

Open in PubMed Open full text

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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