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

Research output: Contribution to journalArticleResearchpeer-review

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.

LanguageEnglish
Pages1602.e1-1602.e2
Number of pages2
JournalNeurobiology of Aging
Volume36
Issue number3
DOIs
Publication statusPublished - 1 Mar 2015

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Mutation
Amyotrophic Lateral Sclerosis
Exome
Motor Neurons
Neurodegenerative Diseases
Amyotrophic lateral sclerosis 1
Genes
Distal 2 Myopathy

Cite this

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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.",
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Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis. / Fifita, Jennifer A.; Williams, Kelly L.; McCann, Emily P.; O'Brien, Aidan; Bauer, Denis C.; Nicholson, Garth A.; Blair, Ian P.

In: Neurobiology of Aging, Vol. 36, No. 3, 01.03.2015, p. 1602.e1-1602.e2.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Nicholson, Garth A.

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