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Article

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology - 11 Oct 2016

Horga Alejandro, Tomaselli Pedro J, Gonzalez Michael A, Laurà Matilde, Muntoni Francesco, Manzur Adnan Y, Hanna Michael G, Blake Julian C, Houlden Henry, Züchner Stephan, Reilly Mary M

Abstract excerpt

OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. METHODS: We used whole-exome sequencing to investigate the proband. The variants of interest were...

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Identifiers

PMID: 27629094
DOI: 10.1212/WNL.0000000000003212
PMCID: PMC5067545

Genes

SIGMAR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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