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AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20

AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20

Amyotrophic lateral sclerosis-20 (ALS20) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13.Mutation in the HNRNPA1 also causes ...

Amyotrophic lateral sclerosis-20 (ALS20) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13.

Mutation in the HNRNPA1 also causes a multisystem proteinopathy (IBMPFD3; 615424).

For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).

▼ Molecular Genetics

Kim et al. (2013) screened 212 familial ALS cases for sequence variants in the HNRNPA2B1 (600124) or HNRNPA1 (164017) genes. They identified 1 dominantly inherited case in which known ALS genes had been excluded with mutation in the HNRNPA1 gene (164017.0002). Kim et al. (2013) also screened 305 sporadic ALS cases and identified a nonsynonymous HNRNPA1 variant in an individual with classic, late-onset ALS (164017.0003).

Tags: 12q13.13