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Article

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Journal of neuromuscular diseases - 1 Jan 2019

Gillespie Meredith K, McMillan Hugh J, Kernohan Kristin D, Pena Izabella A, Meyer-Schuman Rebecca, Antonellis Anthony, Boycott Kym M

Abstract excerpt

Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more than 70 genes now associated with this neuromuscular disease. The MARS gene was recently reported as the cause of Charcot-Marie-Tooth 2U, a slowly progressive axonal...

Read the complete abstract on PubMed

Topics

Charcot-Marie-Tooth Disease
Child
Female
Humans
Methionine-tRNA Ligase
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Protein Structure, Tertiary

Source

Open in PubMed Open full text

Identifiers

PMID: 31356216
DOI: 10.3233/JND-190404
PMCID: PMC6889022

Variants

Provenance

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A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.PMID 31356216Read ↗

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