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Article

De novo mutations in SOD1 are a cause of ALS.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2022

Müller Kathrin, Oh Ki-Wook, Nordin Angelica, Panthi Sudhan, Kim Seung Hyun, Nordin Frida, Freischmidt Axel, Ludolph Albert C, Ki Chang Seok, Forsberg Karin, Weishaupt Jochen, Kim Young-Eun, Andersen Peter Munch

Abstract excerpt

OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or postzygotic during embryonal development can result in an apparently sporadic/isolated case of ALS later in life. We searched for de novo mutations in SOD1 as a cause of ALS....

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Identifiers

PMID: 34518333
DOI: 10.1136/jnnp-2021-327520
PMCID: PMC8784989

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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