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Article

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 May 2018

Almendra Luciano, Laranjeira Francisco, Fernández-Marmiesse Ana, Negrão Luís

Abstract excerpt

SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female...

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Source

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Identifiers

PMID: 30079398
PMCID: PMC6060428

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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SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.PMID 30079398Read ↗

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