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Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene
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Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10—15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.
Media Sphere Publishing House
Title: Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene
Description:
Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10—15% of cases genetic forms are recorded.
A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013.
A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS.
We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.
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