Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Jennifer A. Fifita, Kelly L. Williams, Emily P. McCann, Aidan O'Brien, Denis C. Bauer, Garth A. Nicholson, Ian P. Blair*

*Corresponding author for this work

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that arises from the progressive degeneration of the motor neurons. Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. We sought to determine the prevalence of MATR3 mutations in Australian familial ALS (n= 106) using whole exome sequencing. No mutations were identified, indicating that MATR3 mutations are not a common cause of ALS in Australian familial cases with predominately European ancestry.

Original languageEnglish
Pages (from-to)1602.e1-1602.e2
Number of pages2
JournalNeurobiology of Aging
Volume36
Issue number3
DOIs
Publication statusPublished - 1 Mar 2015

Fingerprint Dive into the research topics of 'Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis'. Together they form a unique fingerprint.

  • Projects

    Investigating the genetic basis of ALS

    Blair, I.

    10/12/1230/06/14

    Project: Research

    Cite this