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SIGMAR1 gene-related neuromuscular disorders - what do we know?

Neurologia i neurochirurgia polska - 1 Jan 2026

Kalita Maciej, Jędrzejowska Maria, Potulska-Chromik Anna, Aragon-Gawińska Karolina, Franaszczyk Maria, Stokłosa Tomasz, Lipowska Marta, Kostera-Pruszczyk Anna

Abstract excerpt

INTRODUCTION: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically diverse group of rare neuromuscular disorders characterized by progressive distal muscle weakness and atrophy, often with early onset and sparing of sensory function. One subtype, Jerash-type dHMN (dHMNJ), is caused by biallelic mutations in the SIGMAR1 gene and presents with pyramidal signs in addition to distal weakness....

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Identifiers

PMID: 41334667
DOI: 10.5603/pjnns.106304

Genes

SIGMAR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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