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Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance.

Muscle & nerve - 1 Aug 2026

Ozlu Can, Schwaede Abigail, McGowan Bridget, Zhang Li, Finch Martha, Wolfe Lisa F, Ajroud-Driss Senda, Franz Colin K, Kuntz Nancy

Abstract excerpt

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) patients are rarely encountered before age 25 years, often associated with genetic variants. SOD1 gene variants are well-known to account for a subset of adult-onset ALS but have only been described in a handful of early onset patients. Variants affecting residue 125 in SOD1 have been described in adult-onset ALS patients with a rapid progression. Here we...

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Identifiers

PMID: 42265995
DOI: 10.1002/mus.70314

Genes

SOD1

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