Article
Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Mar 2015
Fifita Jennifer A, Williams Kelly L, McCann Emily P, O'Brien Aidan, Bauer Denis C, Nicholson Garth A, Blair Ian P
Abstract excerpt
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...
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